The landscape of epilepsy-related GATOR1 variants View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-02

AUTHORS

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E. Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d’Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R Nordli, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartolomei, Anne Fabienne Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac

ABSTRACT

PURPOSE: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants. RESULTS: The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia (20%). Infantile spasms were reported in 10% of the probands. Sudden unexpected death in epilepsy (SUDEP) occurred in 10% of the families. Novel classification framework of all 140 epilepsy-related GATOR1 variants (including the variants of this study) revealed that 68% are loss-of-function pathogenic, 14% are likely pathogenic, 15% are variants of uncertain significance and 3% are likely benign. CONCLUSION: Our data emphasize the increasingly important role of GATOR1 genes in the pathogenesis of focal epilepsies (>180 probands to date). The GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsies with cognitive impairment comorbidities to familial focal epilepsies, and SUDEP. More... »

PAGES

398-408

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41436-018-0060-2

DOI

http://dx.doi.org/10.1038/s41436-018-0060-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1106053446

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30093711


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "Sorbonne Universit\u00e9, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France", 
            "INSERM, U1127, F-75013, Paris, France", 
            "CNRS, UMR 7225, F-75013, Paris, France", 
            "Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM), H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris, France", 
            "Department of Genetics, Assistance Publique des H\u00f4pitaux de Paris (AP-HP), H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Baldassari", 
        "givenName": "Sara", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Clinical Neurosciences, University Hospitals and Medical School of Geneva, Geneva, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Picard", 
        "givenName": "Fabienne", 
        "id": "sg:person.01002300232.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002300232.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Medical Center Utrecht", 
          "id": "https://www.grid.ac/institutes/grid.7692.a", 
          "name": [
            "Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Verbeek", 
        "givenName": "Nienke E.", 
        "id": "sg:person.01015451371.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01015451371.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Medical Center Utrecht", 
          "id": "https://www.grid.ac/institutes/grid.7692.a", 
          "name": [
            "Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "van Kempen", 
        "givenName": "Marjan", 
        "id": "sg:person.016210202567.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016210202567.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Medical Center Utrecht", 
          "id": "https://www.grid.ac/institutes/grid.7692.a", 
          "name": [
            "Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brilstra", 
        "givenName": "Eva H.", 
        "id": "sg:person.01200013171.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200013171.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Lyon Neuroscience Research Center", 
          "id": "https://www.grid.ac/institutes/grid.461862.f", 
          "name": [
            "Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon \u2013 GHE; CNRS UMR 5292, INSERM U1028, CNRL, et Universit\u00e9 Claude Bernard Lyon 1, GHE, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lesca", 
        "givenName": "Gaetan", 
        "id": "sg:person.015113012507.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015113012507.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Meyer Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.413181.e", 
          "name": [
            "Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children\u2019s Hospital, Florence, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Conti", 
        "givenName": "Valerio", 
        "id": "sg:person.0650041027.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650041027.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Meyer Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.413181.e", 
          "name": [
            "Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children\u2019s Hospital, Florence, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Guerrini", 
        "givenName": "Renzo", 
        "id": "sg:person.016306214010.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016306214010.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bologna", 
          "id": "https://www.grid.ac/institutes/grid.6292.f", 
          "name": [
            "IRCCS, Istituto delle Scienze Neurologiche of Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bisulli", 
        "givenName": "Francesca", 
        "id": "sg:person.0652436240.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0652436240.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bologna", 
          "id": "https://www.grid.ac/institutes/grid.6292.f", 
          "name": [
            "IRCCS, Istituto delle Scienze Neurologiche of Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Licchetta", 
        "givenName": "Laura", 
        "id": "sg:person.01332473432.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01332473432.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Policlinico S.Orsola-Malpighi", 
          "id": "https://www.grid.ac/institutes/grid.412311.4", 
          "name": [
            "Medical Genetics Unit, Polyclinic Sant\u2019 Orsola-Malpighi University Hospital, Bologna, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pippucci", 
        "givenName": "Tommaso", 
        "id": "sg:person.01007566751.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01007566751.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bologna", 
          "id": "https://www.grid.ac/institutes/grid.6292.f", 
          "name": [
            "IRCCS, Istituto delle Scienze Neurologiche of Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tinuper", 
        "givenName": "Paolo", 
        "id": "sg:person.01265043643.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265043643.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pitaux Universitaires de Strasbourg", 
          "id": "https://www.grid.ac/institutes/grid.412220.7", 
          "name": [
            "Department of Neurology-centre de r\u00e9f\u00e9rence des \u00e9pilepsies rares, University Hospital of Strasbourg, Strasbourg, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hirsch", 
        "givenName": "Edouard", 
        "id": "sg:person.012571044610.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012571044610.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pitaux Universitaires de Strasbourg", 
          "id": "https://www.grid.ac/institutes/grid.412220.7", 
          "name": [
            "Department of Pediatrics - centre de r\u00e9f\u00e9rence des \u00e9pilepsies rares, University Hospital of Strasbourg, Strasbourg, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "de Saint Martin", 
        "givenName": "Anne", 
        "id": "sg:person.01327625652.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327625652.71"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Strasbourg", 
          "id": "https://www.grid.ac/institutes/grid.11843.3f", 
          "name": [
            "IGBMC, INSERM, CNRS, Strasbourg University, Strasbourg, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chelly", 
        "givenName": "Jamel", 
        "id": "sg:person.01037610071.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037610071.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Strasbourg", 
          "id": "https://www.grid.ac/institutes/grid.11843.3f", 
          "name": [
            "IGBMC, INSERM, CNRS, Strasbourg University, Strasbourg, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rudolf", 
        "givenName": "Gabrielle", 
        "id": "sg:person.01074152112.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01074152112.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatric Neurosurgery, Fondation Rothschild, F-75019, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chipaux", 
        "givenName": "Mathilde", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatric Neurosurgery, Fondation Rothschild, F-75019, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ferrand-Sorbets", 
        "givenName": "Sarah", 
        "id": "sg:person.0626031167.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0626031167.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatric Neurosurgery, Fondation Rothschild, F-75019, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dorfm\u00fcller", 
        "givenName": "Georg", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, WC1N 3BG, and Chalfont Centre for Epilepsy, Bucks, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sisodiya", 
        "givenName": "Sanjay", 
        "id": "sg:person.0731232516.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731232516.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, WC1N 3BG, and Chalfont Centre for Epilepsy, Bucks, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Balestrini", 
        "givenName": "Simona", 
        "id": "sg:person.01027374606.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027374606.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, WC1N 3BG, and Chalfont Centre for Epilepsy, Bucks, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schoeler", 
        "givenName": "Natasha", 
        "id": "sg:person.0777641155.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0777641155.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, WC1N 3BG, and Chalfont Centre for Epilepsy, Bucks, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hernandez-Hernandez", 
        "givenName": "Laura", 
        "id": "sg:person.012637160010.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012637160010.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, WC1N 3BG, and Chalfont Centre for Epilepsy, Bucks, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Krithika", 
        "givenName": "S.", 
        "id": "sg:person.013434540410.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013434540410.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Medical Center Utrecht", 
          "id": "https://www.grid.ac/institutes/grid.7692.a", 
          "name": [
            "Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Oegema", 
        "givenName": "Renske", 
        "id": "sg:person.01234224017.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234224017.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Stichting Epilepsie Instellingen Nederland", 
          "id": "https://www.grid.ac/institutes/grid.419298.f", 
          "name": [
            "Stichting Epilepsie Instellingen Nederland, Zwolle/Heemstede, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hagebeuk", 
        "givenName": "Eveline", 
        "id": "sg:person.01023605443.27", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023605443.27"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Stichting Epilepsie Instellingen Nederland", 
          "id": "https://www.grid.ac/institutes/grid.419298.f", 
          "name": [
            "Stichting Epilepsie Instellingen Nederland, Zwolle/Heemstede, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gunning", 
        "givenName": "Boudewijn", 
        "id": "sg:person.01100231016.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01100231016.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Stichting Epilepsie Instellingen Nederland", 
          "id": "https://www.grid.ac/institutes/grid.419298.f", 
          "name": [
            "Stichting Epilepsie Instellingen Nederland, Zwolle/Heemstede, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Deckers", 
        "givenName": "Charles", 
        "id": "sg:person.012761006064.78", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012761006064.78"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Stichting Epilepsie Instellingen Nederland", 
          "id": "https://www.grid.ac/institutes/grid.419298.f", 
          "name": [
            "Stichting Epilepsie Instellingen Nederland, Zwolle/Heemstede, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Berghuis", 
        "givenName": "Bianca", 
        "id": "sg:person.0641634757.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641634757.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Stichting Epilepsie Instellingen Nederland", 
          "id": "https://www.grid.ac/institutes/grid.419298.f", 
          "name": [
            "Stichting Epilepsie Instellingen Nederland, Zwolle/Heemstede, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wegner", 
        "givenName": "Ilse", 
        "id": "sg:person.01126056322.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01126056322.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Leiden University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.10419.3d", 
          "name": [
            "Leiden University Medical Center, Leiden, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Niks", 
        "givenName": "Erik", 
        "id": "sg:person.0737620071.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737620071.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Medical Center Utrecht", 
          "id": "https://www.grid.ac/institutes/grid.7692.a", 
          "name": [
            "Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jansen", 
        "givenName": "Floor E.", 
        "id": "sg:person.01035444303.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035444303.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Medical Center Utrecht", 
          "id": "https://www.grid.ac/institutes/grid.7692.a", 
          "name": [
            "Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Braun", 
        "givenName": "Kees", 
        "id": "sg:person.012705273210.99", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012705273210.99"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Neurology, Academic Center for Epileptology Kempenhaeghe, Heeze, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "de Jong", 
        "givenName": "Dani\u00eblle", 
        "id": "sg:person.013502653610.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013502653610.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Filadelfia", 
          "id": "https://www.grid.ac/institutes/grid.452376.1", 
          "name": [
            "Danish Epilepsy Centre, Dianalund, University of Copenhagen, Copenhagen, Denmark"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rubboli", 
        "givenName": "Guido", 
        "id": "sg:person.01171004731.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01171004731.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Neurology and Rehabilitation, Tallinn Children\u2019s Hospital, Tallinn, Estonia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Talvik", 
        "givenName": "Inga", 
        "id": "sg:person.0600243624.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600243624.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Neurology and Rehabilitation, Tallinn Children\u2019s Hospital, Tallinn, Estonia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sander", 
        "givenName": "Valentin", 
        "id": "sg:person.015673175210.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015673175210.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Filadelfia", 
          "id": "https://www.grid.ac/institutes/grid.452376.1", 
          "name": [
            "Danish Epilepsy Centre, Dianalund, Denmark"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Uldall", 
        "givenName": "Peter", 
        "id": "sg:person.0757425675.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0757425675.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de La R\u00e9union", 
          "id": "https://www.grid.ac/institutes/grid.440886.6", 
          "name": [
            "Unit of Medical Genetics, CHU La R\u00e9union, F-97448, Saint Pierre, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jacquemont", 
        "givenName": "Marie-Line", 
        "id": "sg:person.0712222752.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712222752.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "Sorbonne Universit\u00e9, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France", 
            "INSERM, U1127, F-75013, Paris, France", 
            "CNRS, UMR 7225, F-75013, Paris, France", 
            "Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM), H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris, France", 
            "Department of Genetics, Assistance Publique des H\u00f4pitaux de Paris (AP-HP), H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nava", 
        "givenName": "Caroline", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "Sorbonne Universit\u00e9, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France", 
            "INSERM, U1127, F-75013, Paris, France", 
            "CNRS, UMR 7225, F-75013, Paris, France", 
            "Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM), H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris, France", 
            "Department of Genetics, Assistance Publique des H\u00f4pitaux de Paris (AP-HP), H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Leguern", 
        "givenName": "Eric", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Toulouse", 
          "id": "https://www.grid.ac/institutes/grid.411175.7", 
          "name": [
            "Service de G\u00e9n\u00e9tique M\u00e9dicale, Pavillon Lefebvre, H\u00f4pital Purpan CHU Toulouse, Toulouse, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Julia", 
        "givenName": "Sophie", 
        "id": "sg:person.0734301664.89", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734301664.89"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Magna Graecia University", 
          "id": "https://www.grid.ac/institutes/grid.411489.1", 
          "name": [
            "Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Gr\u00e6cia, Catanzaro, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gambardella", 
        "givenName": "Antonio", 
        "id": "sg:person.013226624020.93", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013226624020.93"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Foggia", 
          "id": "https://www.grid.ac/institutes/grid.10796.39", 
          "name": [
            "Epilepsy Center, Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "d\u2019Orsi", 
        "givenName": "Giuseppe", 
        "id": "sg:person.0717166222.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717166222.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ospedale Santa Maria della Misericordia di Udine", 
          "id": "https://www.grid.ac/institutes/grid.411492.b", 
          "name": [
            "Department of Pediatrics, Institute of Medicine, University Hospital of Udine, Udine, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Crichiutti", 
        "givenName": "Giovanni", 
        "id": "sg:person.0706064541.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706064541.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Burgundy", 
          "id": "https://www.grid.ac/institutes/grid.5613.1", 
          "name": [
            "Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs et FHU TRANSLAD, CHU de Dijon et Universit\u00e9 de Bourgogne, Dijon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Faivre", 
        "givenName": "Laurence", 
        "id": "sg:person.01237661366.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237661366.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional Universitaire De Dijon", 
          "id": "https://www.grid.ac/institutes/grid.31151.37", 
          "name": [
            "Service de neurophysiologie et p\u00e9diatrie 1, CHU de Dijon, Dijon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Darmency", 
        "givenName": "Veronique", 
        "id": "sg:person.01005450554.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01005450554.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital in Motol", 
          "id": "https://www.grid.ac/institutes/grid.412826.b", 
          "name": [
            "Department of Paediatric Neurology, Motol University Hospital, 2nd faculty of medicine Charles University, Prague, Czech Republic"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Benova", 
        "givenName": "Barbora", 
        "id": "sg:person.014463077420.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014463077420.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital in Motol", 
          "id": "https://www.grid.ac/institutes/grid.412826.b", 
          "name": [
            "Department of Paediatric Neurology, Motol University Hospital, 2nd faculty of medicine Charles University, Prague, Czech Republic"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Krsek", 
        "givenName": "Pavel", 
        "id": "sg:person.0617164055.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0617164055.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Rennes", 
          "id": "https://www.grid.ac/institutes/grid.411154.4", 
          "name": [
            "Centre Hospitalier Universitaire de Rennes, F-35000, Rennes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Biraben", 
        "givenName": "Arnaud", 
        "id": "sg:person.0605051366.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0605051366.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "CHU Reims, H\u00f4pital Maison Blanche, P\u00f4le de Biologie, Service de G\u00e9n\u00e9tique, F-51092, Reims, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lebre", 
        "givenName": "Anne-Sophie", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire De Reims", 
          "id": "https://www.grid.ac/institutes/grid.139510.f", 
          "name": [
            "CHU Reims, American Memorial Hospital, Service de P\u00e9diatrie, F-51092, REIMS, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jennesson", 
        "givenName": "M\u00e9lanie", 
        "id": "sg:person.01125176267.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01125176267.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatric Neurology, Rady Children\u2019s Hospital/University of California, San Diego, California, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sattar", 
        "givenName": "Shifteh", 
        "id": "sg:person.01305545771.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305545771.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Bordeaux", 
          "id": "https://www.grid.ac/institutes/grid.42399.35", 
          "name": [
            "Service d\u2019Epileptologie Clinique, CHU de Bordeaux, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Marchal", 
        "givenName": "C\u00e9cile", 
        "id": "sg:person.0643001733.27", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643001733.27"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Children\u2019s Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nordli", 
        "givenName": "Douglas R", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Phoenix Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.417276.1", 
          "name": [
            "Division of Genetics and Metabolism, Phoenix Children\u2019s Hospital, Phoenix, Arizona, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lindstrom", 
        "givenName": "Kristin", 
        "id": "sg:person.01116425163.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116425163.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, \u201cG. Gaslini\u201d Institute, Genova, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Striano", 
        "givenName": "Pasquale", 
        "id": "sg:person.0670174435.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0670174435.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Queen's University", 
          "id": "https://www.grid.ac/institutes/grid.410356.5", 
          "name": [
            "Department of Medicine, Divisions of Neurology and Respirology, Queen\u2019s University, Kingston, Ontario, Canada", 
            "Kingston Health Sciences Centre, K7L 2V7, Kingston, Ontario, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lomax", 
        "givenName": "Lysa Boiss\u00e9", 
        "id": "sg:person.013552615013.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013552615013.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Kingston Health Sciences Centre, K7L 2V7, Kingston, Ontario, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kiss", 
        "givenName": "Courtney", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital de la Timone", 
          "id": "https://www.grid.ac/institutes/grid.411266.6", 
          "name": [
            "Pediatric Neurology Department, Timone Hospital, APHM, Marseille, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bartolomei", 
        "givenName": "Fabrice", 
        "id": "sg:person.01305501031.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305501031.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital de la Timone", 
          "id": "https://www.grid.ac/institutes/grid.411266.6", 
          "name": [
            "Pediatric Neurology Department, Timone Hospital, APHM, Marseille, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lepine", 
        "givenName": "Anne Fabienne", 
        "id": "sg:person.01356741203.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01356741203.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Antwerp University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411414.5", 
          "name": [
            "Department of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schoonjans", 
        "givenName": "An-Sofie", 
        "id": "sg:person.0747104100.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747104100.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Neurogenetics Research Group, Laarbeeklaan 101, 1090, Brussels, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stouffs", 
        "givenName": "Katrien", 
        "id": "sg:person.01171150147.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01171150147.71"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Neurogenetics Research Group, Laarbeeklaan 101, 1090, Brussels, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jansen", 
        "givenName": "Anna", 
        "id": "sg:person.013665215410.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013665215410.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospices Civils de Lyon", 
          "id": "https://www.grid.ac/institutes/grid.413852.9", 
          "name": [
            "Paediatric Clinical Epileptology, Sleep disorders and Functional Neurology, University Hospitals of Lyon (HCL), Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Panagiotakaki", 
        "givenName": "Eleni", 
        "id": "sg:person.0642462667.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642462667.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional Universitaire De Dijon", 
          "id": "https://www.grid.ac/institutes/grid.31151.37", 
          "name": [
            "Unit\u00e9 d\u2019\u00e9pileptologie, Service de Neurologie, CHU, 49033, Angers, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ricard-Mousnier", 
        "givenName": "Brigitte", 
        "id": "sg:person.01170501463.61", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01170501463.61"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Burgundy", 
          "id": "https://www.grid.ac/institutes/grid.5613.1", 
          "name": [
            "Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, et FHU-TRANSLAD, CHU/Universit\u00e9 de Bourgogne-Franche Comt\u00e9, Dijon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thevenon", 
        "givenName": "Julien", 
        "id": "sg:person.01043074652.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043074652.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospices Civils de Lyon", 
          "id": "https://www.grid.ac/institutes/grid.413852.9", 
          "name": [
            "Paediatric Clinical Epileptology, Sleep disorders and Functional Neurology, University Hospitals of Lyon (HCL), Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "de Bellescize", 
        "givenName": "Julitta", 
        "id": "sg:person.0640212647.50", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0640212647.50"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospices Civils de Lyon", 
          "id": "https://www.grid.ac/institutes/grid.413852.9", 
          "name": [
            "Paediatric Clinical Epileptology, Sleep disorders and Functional Neurology, University Hospitals of Lyon (HCL), Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Catenoix", 
        "givenName": "H\u00e9l\u00e8ne", 
        "id": "sg:person.0642132311.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642132311.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Clinique Bernoise, Crans-, Montana, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dorn", 
        "givenName": "Thomas", 
        "id": "sg:person.010153707310.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010153707310.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Magdeburg", 
          "id": "https://www.grid.ac/institutes/grid.411559.d", 
          "name": [
            "Institute of Human Genetics, University Hospital, Magdeburg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zenker", 
        "givenName": "Martin", 
        "id": "sg:person.0773476645.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773476645.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Epilepsy Center for Children, Brandenburg Medical School, University Hospital, Neuruppin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "M\u00fcller-Schl\u00fcter", 
        "givenName": "Karen", 
        "id": "sg:person.011546650310.68", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011546650310.68"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Bethel Epilepsy Centre, Bielefeld, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brandt", 
        "givenName": "Christian", 
        "id": "sg:person.012344230710.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012344230710.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Leipzig University", 
          "id": "https://www.grid.ac/institutes/grid.9647.c", 
          "name": [
            "Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Krey", 
        "givenName": "Ilona", 
        "id": "sg:person.013141611310.20", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013141611310.20"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Bethel Epilepsy Centre, Bielefeld, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Polster", 
        "givenName": "Tilman", 
        "id": "sg:person.0662450353.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662450353.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universit\u00e4tsklinikum T\u00fcbingen", 
          "id": "https://www.grid.ac/institutes/grid.411544.1", 
          "name": [
            "Department of Pediatric Neurology and Developmental Medicine, University Children\u2019s Hospital, T\u00fcbingen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wolff", 
        "givenName": "Markus", 
        "id": "sg:person.01307177531.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307177531.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Witten/Herdecke University", 
          "id": "https://www.grid.ac/institutes/grid.412581.b", 
          "name": [
            "Department of Pediatric Neurology, Children\u2019s Hospital Datteln, Witten/Herdecke University, Datteln, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Balci", 
        "givenName": "Meral", 
        "id": "sg:person.015332132710.81", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015332132710.81"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Witten/Herdecke University", 
          "id": "https://www.grid.ac/institutes/grid.412581.b", 
          "name": [
            "Department of Pediatric Neurology, Children\u2019s Hospital Datteln, Witten/Herdecke University, Datteln, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rostasy", 
        "givenName": "Kevin", 
        "id": "sg:person.01241160520.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241160520.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institut de Syst\u00e9matique, \u00c9volution, Biodiversit\u00e9", 
          "id": "https://www.grid.ac/institutes/grid.463994.5", 
          "name": [
            "Institut de Syst\u00e9matique, Evolution, Biodiversit\u00e9, ISYEB, UMR 7205 CNRS MNHN UPMC EPHE, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Achaz", 
        "givenName": "Guillaume", 
        "id": "sg:person.01005036505.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01005036505.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zacher", 
        "givenName": "Pia", 
        "id": "sg:person.010222022510.93", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010222022510.93"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Kinderneurologisches Zentrum, D\u00fcsseldorf-Gerresheim, Sana Kliniken, D\u00fcsseldorf, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Becher", 
        "givenName": "Thomas", 
        "id": "sg:person.011017403110.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011017403110.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Bethel Epilepsy Centre, Bielefeld, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cloppenborg", 
        "givenName": "Thomas", 
        "id": "sg:person.0604176312.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604176312.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Boston, Massachusetts, USA", 
            "Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children\u2019s Hospital, Boston, Massachusetts, USA", 
            "Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yuskaitis", 
        "givenName": "Christopher J.", 
        "id": "sg:person.01103574711.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103574711.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Antwerp", 
          "id": "https://www.grid.ac/institutes/grid.5284.b", 
          "name": [
            "Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Weckhuysen", 
        "givenName": "Sarah", 
        "id": "sg:person.01122202007.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01122202007.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Boston, Massachusetts, USA", 
            "Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children\u2019s Hospital, Boston, Massachusetts, USA", 
            "Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Poduri", 
        "givenName": "Annapurna", 
        "id": "sg:person.0656631331.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656631331.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Leipzig University", 
          "id": "https://www.grid.ac/institutes/grid.9647.c", 
          "name": [
            "Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lemke", 
        "givenName": "Johannes R.", 
        "id": "sg:person.01136604762.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136604762.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Southern Denmark", 
          "id": "https://www.grid.ac/institutes/grid.10825.3e", 
          "name": [
            "Danish Epilepsy Centre, Dianalund; Institute for Regional Health research, University of Southern Denmark, Odense, Denmark"
          ], 
          "type": "Organization"
        }, 
        "familyName": "M\u00f8ller", 
        "givenName": "Rikke S.", 
        "id": "sg:person.015400246110.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015400246110.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "Sorbonne Universit\u00e9, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France", 
            "INSERM, U1127, F-75013, Paris, France", 
            "CNRS, UMR 7225, F-75013, Paris, France", 
            "Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM), H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris, France", 
            "Department of Genetics, Assistance Publique des H\u00f4pitaux de Paris (AP-HP), H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Baulac", 
        "givenName": "St\u00e9phanie", 
        "id": "sg:person.01325521277.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325521277.37"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/ana.24502", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008795159"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.24368", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012299695"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2601", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012627858", 
          "https://doi.org/10.1038/ng.2601"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/bs.pbr.2016.04.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021057730"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2015.30", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022229472", 
          "https://doi.org/10.1038/gim.2015.30"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature19057", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022281897", 
          "https://doi.org/10.1038/nature19057"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1232044", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022622417"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2599", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024759071", 
          "https://doi.org/10.1038/ng.2599"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1474-4422(16)30158-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027251582"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.24357", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030523483"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.24547", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032180337"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/acn3.191", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032656556"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/epi.13391", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032885003"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.24126", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034589148"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e31826c1b55", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035748694"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e31826c1b55", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035748694"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.eplepsyres.2016.10.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037583929"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/nxg.0000000000000028", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039670133"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/nxg.0000000000000028", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039670133"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.24127", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039876952"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkw1121", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041474443"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1528-1167.2011.03358.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045275183"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3703", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046660279", 
          "https://doi.org/10.1038/ng.3703"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nbd.2016.02.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050812171"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/nxg.0000000000000016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050953852"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/nxg.0000000000000016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050953852"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.24596", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052355099"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000000488", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064352204"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000000488", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064352204"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000000488", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064352204"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000000488", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064352204"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/14728222.2017.1316715", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084819499"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000003685", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085256838"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000003685", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085256838"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000003685", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085256838"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2017.37", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085387500", 
          "https://doi.org/10.1038/gim.2017.37"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/s41598-017-12574-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1092015779", 
          "https://doi.org/10.1038/s41598-017-12574-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3389/fped.2017.00219", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1092188484"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa1703784", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1092350171"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nbd.2017.12.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1099731058"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nbd.2017.12.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1099731058"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2017.218", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1100161480", 
          "https://doi.org/10.1038/gim.2017.218"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2017.218", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1100161480", 
          "https://doi.org/10.1038/gim.2017.218"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature26158", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1101795552", 
          "https://doi.org/10.1038/nature26158"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature26158", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1101795552", 
          "https://doi.org/10.1038/nature26158"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci99384", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103690912"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-02", 
    "datePublishedReg": "2019-02-01", 
    "description": "PURPOSE: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants.\nRESULTS: The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia (20%). Infantile spasms were reported in 10% of the probands. Sudden unexpected death in epilepsy (SUDEP) occurred in 10% of the families. Novel classification framework of all 140 epilepsy-related GATOR1 variants (including the variants of this study) revealed that 68% are loss-of-function pathogenic, 14% are likely pathogenic, 15% are variants of uncertain significance and 3% are likely benign.\nCONCLUSION: Our data emphasize the increasingly important role of GATOR1 genes in the pathogenesis of focal epilepsies (>180 probands to date). The GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsies with cognitive impairment comorbidities to familial focal epilepsies, and SUDEP.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41436-018-0060-2", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.6447131", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1119411", 
        "issn": [
          "1098-3600", 
          "1530-0366"
        ], 
        "name": "Genetics in Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "2", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "21"
      }
    ], 
    "name": "The landscape of epilepsy-related GATOR1 variants", 
    "pagination": "398-408", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "18fc8a452991c0c5319bd7a444a4a4b4b94ee62f4c24bf17761d02a419029914"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30093711"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9815831"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41436-018-0060-2"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1106053446"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41436-018-0060-2", 
      "https://app.dimensions.ai/details/publication/pub.1106053446"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T10:59", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000352_0000000352/records_60335_00000003.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41436-018-0060-2"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0060-2'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0060-2'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0060-2'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0060-2'


 

This table displays all metadata directly associated to this object as RDF triples.

945 TRIPLES      21 PREDICATES      64 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41436-018-0060-2 schema:about anzsrc-for:11
2 anzsrc-for:1109
3 schema:author N8bcc422e16994e309357de5a298f79df
4 schema:citation sg:pub.10.1038/gim.2015.30
5 sg:pub.10.1038/gim.2017.218
6 sg:pub.10.1038/gim.2017.37
7 sg:pub.10.1038/nature19057
8 sg:pub.10.1038/nature26158
9 sg:pub.10.1038/ng.2599
10 sg:pub.10.1038/ng.2601
11 sg:pub.10.1038/ng.3703
12 sg:pub.10.1038/s41598-017-12574-2
13 https://doi.org/10.1002/acn3.191
14 https://doi.org/10.1002/ana.24126
15 https://doi.org/10.1002/ana.24127
16 https://doi.org/10.1002/ana.24357
17 https://doi.org/10.1002/ana.24368
18 https://doi.org/10.1002/ana.24502
19 https://doi.org/10.1002/ana.24547
20 https://doi.org/10.1002/ana.24596
21 https://doi.org/10.1016/bs.pbr.2016.04.013
22 https://doi.org/10.1016/j.eplepsyres.2016.10.006
23 https://doi.org/10.1016/j.nbd.2016.02.010
24 https://doi.org/10.1016/j.nbd.2017.12.010
25 https://doi.org/10.1016/s1474-4422(16)30158-2
26 https://doi.org/10.1056/nejmoa1703784
27 https://doi.org/10.1080/14728222.2017.1316715
28 https://doi.org/10.1093/nar/gkw1121
29 https://doi.org/10.1111/epi.13391
30 https://doi.org/10.1111/j.1528-1167.2011.03358.x
31 https://doi.org/10.1126/science.1232044
32 https://doi.org/10.1172/jci99384
33 https://doi.org/10.1212/nxg.0000000000000016
34 https://doi.org/10.1212/nxg.0000000000000028
35 https://doi.org/10.1212/wnl.0000000000000488
36 https://doi.org/10.1212/wnl.0000000000003685
37 https://doi.org/10.1212/wnl.0b013e31826c1b55
38 https://doi.org/10.3389/fped.2017.00219
39 schema:datePublished 2019-02
40 schema:datePublishedReg 2019-02-01
41 schema:description PURPOSE: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants. RESULTS: The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia (20%). Infantile spasms were reported in 10% of the probands. Sudden unexpected death in epilepsy (SUDEP) occurred in 10% of the families. Novel classification framework of all 140 epilepsy-related GATOR1 variants (including the variants of this study) revealed that 68% are loss-of-function pathogenic, 14% are likely pathogenic, 15% are variants of uncertain significance and 3% are likely benign. CONCLUSION: Our data emphasize the increasingly important role of GATOR1 genes in the pathogenesis of focal epilepsies (>180 probands to date). The GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsies with cognitive impairment comorbidities to familial focal epilepsies, and SUDEP.
42 schema:genre research_article
43 schema:inLanguage en
44 schema:isAccessibleForFree true
45 schema:isPartOf N32dd4e7370004fb5830795961ae1d9c6
46 N80c2106221ec408b945e38c36227f5b4
47 sg:journal.1119411
48 schema:name The landscape of epilepsy-related GATOR1 variants
49 schema:pagination 398-408
50 schema:productId N0f9969e8165444f9a0b2bd7177c133ea
51 N334c146b96f84fcf93b41e1c46c30ab3
52 Ne492e181b57b43ada8fe12fe15854450
53 Ned1f293175ba41278800562b1f313d25
54 Nf9c16c85cff544bfb5920a40f209ef52
55 schema:sameAs https://app.dimensions.ai/details/publication/pub.1106053446
56 https://doi.org/10.1038/s41436-018-0060-2
57 schema:sdDatePublished 2019-04-11T10:59
58 schema:sdLicense https://scigraph.springernature.com/explorer/license/
59 schema:sdPublisher Nf4d3eda08cfe423babdf751ce3d4eb88
60 schema:url https://www.nature.com/articles/s41436-018-0060-2
61 sgo:license sg:explorer/license/
62 sgo:sdDataset articles
63 rdf:type schema:ScholarlyArticle
64 N067ac403d39944f38f439b0c2955c686 rdf:first sg:person.010222022510.93
65 rdf:rest N9ee8a286a0784a1b9e9d323900739120
66 N06c10b57d1fb4d2a89d38d6bba17ee46 schema:name Kingston Health Sciences Centre, K7L 2V7, Kingston, Ontario, Canada
67 rdf:type schema:Organization
68 N0712eed3054f45d698e94eda5598a9b4 rdf:first sg:person.01005036505.31
69 rdf:rest N067ac403d39944f38f439b0c2955c686
70 N077b0d96c0e54cb7beb27132fc5f674b schema:name Department of Pediatric Neurosurgery, Fondation Rothschild, F-75019, Paris, France
71 rdf:type schema:Organization
72 N09942147a99a4638bfa3570ee175fe41 schema:name Bethel Epilepsy Centre, Bielefeld, Germany
73 rdf:type schema:Organization
74 N0f9969e8165444f9a0b2bd7177c133ea schema:name dimensions_id
75 schema:value pub.1106053446
76 rdf:type schema:PropertyValue
77 N0fe159fceaee473ca3da94100a62be1c schema:affiliation N5413e9dee1c64d898e66860f6b5ae84b
78 schema:familyName Dorfmüller
79 schema:givenName Georg
80 rdf:type schema:Person
81 N11c299abf7314552a25037a3c5bed33b rdf:first sg:person.0706064541.84
82 rdf:rest N55c097ce8bd442258c4a428d79699f79
83 N120cf207bcb34410a76d8644f0614082 schema:name Department of Pediatric Neurosurgery, Fondation Rothschild, F-75019, Paris, France
84 rdf:type schema:Organization
85 N12790a3ccd984836be9780bebbe60b93 rdf:first sg:person.012637160010.41
86 rdf:rest N44ad045fbd3e4c4bb9f082f94e307ade
87 N13d501a8d60c427093b095a0500068e3 rdf:first sg:person.0737620071.06
88 rdf:rest Nc2cc35513a8041b9aa324f46f88702b5
89 N17be2e39b6bb4e8eaad95242f611325c rdf:first sg:person.0641634757.10
90 rdf:rest N3e4e17d12d484ba584cab33f5b4ae5c3
91 N193c81076a984bfbabc7cf57d1743dd9 rdf:first N673ebb25104e46158d9bf029e4a1ecd7
92 rdf:rest N9e16c3a836f646fb82de5154535daa40
93 N1a0b0c1733194c16a3d5b9beb6fc64be rdf:first sg:person.01002300232.04
94 rdf:rest N1c3d333753864e5e82ee06ee2e35b382
95 N1c3d333753864e5e82ee06ee2e35b382 rdf:first sg:person.01015451371.13
96 rdf:rest N7781cf08ac20452f8a1e8b08e03f5f2c
97 N1dbe31ab663746b39d74a614858c1502 rdf:first sg:person.01074152112.73
98 rdf:rest N193c81076a984bfbabc7cf57d1743dd9
99 N1e4a211f59aa4c3da803b19cb24dfb59 rdf:first Ne2e0391aafe241cea459aca53f427349
100 rdf:rest N2980426c983b48469045f74c06614cf8
101 N1ee2b23c6f504ffb878673460ef73e5e rdf:first Nb18c5c31416241d6bab3df7f4437169a
102 rdf:rest Na2883c3805c949ff95223c29a7ede2f2
103 N21492b347e324b41a90e6502e28fcf1b schema:name Bethel Epilepsy Centre, Bielefeld, Germany
104 rdf:type schema:Organization
105 N268804ddbc6e48db98c0777abfbf1301 rdf:first sg:person.01100231016.39
106 rdf:rest Ne3e22bfa42ab4f1a92d0f64ca4f3c68b
107 N27b9d7f3a0cd4960ac9fa7383939dc4b rdf:first sg:person.0640212647.50
108 rdf:rest N5dea5af7d7e042e3a13bee6c85018560
109 N2980426c983b48469045f74c06614cf8 rdf:first sg:person.0734301664.89
110 rdf:rest N9a0e9317f3bb4316b4e8db49cade884b
111 N2c9769bdaf3c46219a227fb5a5a3673d rdf:first sg:person.014463077420.58
112 rdf:rest Ncb150e2c6f354f118150a6c4a76f6fe9
113 N2f7b6c91236d4f7c9b581a051e100a2d schema:name The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany
114 rdf:type schema:Organization
115 N31c373e9193a48f4a5b281ff46e9cad5 rdf:first sg:person.0604176312.15
116 rdf:rest Nbbaaddc285f2488fa4797c9913b7ab6c
117 N322aa83279d74280ad6ef4ab55567341 rdf:first sg:person.0773476645.92
118 rdf:rest Nd9cd278795a140628e27a3b6efb58a88
119 N32dd4e7370004fb5830795961ae1d9c6 schema:volumeNumber 21
120 rdf:type schema:PublicationVolume
121 N334c146b96f84fcf93b41e1c46c30ab3 schema:name readcube_id
122 schema:value 18fc8a452991c0c5319bd7a444a4a4b4b94ee62f4c24bf17761d02a419029914
123 rdf:type schema:PropertyValue
124 N340e81b957144c1489a8ec7650016912 rdf:first sg:person.0642462667.97
125 rdf:rest N77c16ca75dbb4660a3eddac5c27f93ec
126 N36f053293ba848ae84a7bf521ebcbb93 rdf:first sg:person.0656631331.10
127 rdf:rest Nfdfb143927634eb992a2307aa5781618
128 N3724ad661f7e48c6a0789f9f0e3b7688 rdf:first sg:person.0757425675.10
129 rdf:rest N70f9c798e72949a598441f0e3feecfd0
130 N37d7f50d56e9474f86936db0b49aa16f rdf:first sg:person.0731232516.37
131 rdf:rest Nb0eba68c0d684cc89cc41f1190083558
132 N394b7cf7085142b79a4cca071ae17793 rdf:first sg:person.01037610071.33
133 rdf:rest N1dbe31ab663746b39d74a614858c1502
134 N3abe019298634a8e968554ab107d8392 schema:name Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, “G. Gaslini” Institute, Genova, Italy
135 rdf:type schema:Organization
136 N3db213ab85f94c1e82a14fae961c103c rdf:first sg:person.01116425163.70
137 rdf:rest Nff5553d7a0b949e6be1aff1ca5ed7947
138 N3e4e17d12d484ba584cab33f5b4ae5c3 rdf:first sg:person.01126056322.97
139 rdf:rest N13d501a8d60c427093b095a0500068e3
140 N40d67f28b6ed4bd19f38c45c60620700 rdf:first sg:person.0662450353.39
141 rdf:rest N4b1281717b3547b19e636d8fa8fd8146
142 N44ad045fbd3e4c4bb9f082f94e307ade rdf:first sg:person.013434540410.34
143 rdf:rest Nd7ca1fca8fe84b18b719bc73d43d56fa
144 N46077594e066431ea141bd1ef290eea3 rdf:first sg:person.012571044610.11
145 rdf:rest Nc19ee5b8ef5045668cef32007653afe5
146 N48201a1ab704494eb739c354f7c2aa86 schema:name CHU Reims, Hôpital Maison Blanche, Pôle de Biologie, Service de Génétique, F-51092, Reims, France
147 rdf:type schema:Organization
148 N490ecba80053499c87ff88ea90df7e03 rdf:first sg:person.015113012507.51
149 rdf:rest N60d34ff6bd734dbb8b100f56233c088d
150 N4b1281717b3547b19e636d8fa8fd8146 rdf:first sg:person.01307177531.15
151 rdf:rest N79b5cc4d24314331878c85f3f191b9f8
152 N4b7c4089e3e7400eac928f5d06213dad schema:name Department of Neurology and Rehabilitation, Tallinn Children’s Hospital, Tallinn, Estonia
153 rdf:type schema:Organization
154 N4dc60cf123fe44249f0f57be5f2dc8ff rdf:first sg:person.01171150147.71
155 rdf:rest Nd2647d3b6c3a424abf8d57d46d584b9d
156 N52b9d43b0ce74473949e039c0134e490 rdf:first sg:person.012344230710.51
157 rdf:rest Na262da078ad2406bb95d9f6312bcd279
158 N5346739de980419a8d9ed74fc6548c60 rdf:first sg:person.0777641155.31
159 rdf:rest N12790a3ccd984836be9780bebbe60b93
160 N5413e9dee1c64d898e66860f6b5ae84b schema:name Department of Pediatric Neurosurgery, Fondation Rothschild, F-75019, Paris, France
161 rdf:type schema:Organization
162 N55c097ce8bd442258c4a428d79699f79 rdf:first sg:person.01237661366.90
163 rdf:rest N69a07416ea024a5a9f2e0d49f22e76e1
164 N5b6d1a68aa524f23bcd64a464188173c rdf:first sg:person.015400246110.04
165 rdf:rest N9d27ef1e658d47e59a0da8a2309f53a9
166 N5dea5af7d7e042e3a13bee6c85018560 rdf:first sg:person.0642132311.10
167 rdf:rest Nca67a8e09ce84e18b477cff7d997374c
168 N5f955df446894e0bbd9f142ecdd9f09b rdf:first sg:person.015673175210.39
169 rdf:rest N3724ad661f7e48c6a0789f9f0e3b7688
170 N60263e2bbbce485d8673fba6c5ba8d8e rdf:first sg:person.0600243624.64
171 rdf:rest N5f955df446894e0bbd9f142ecdd9f09b
172 N604a173809024d109191f6f67c74d4b4 schema:name Department of Neurology and Rehabilitation, Tallinn Children’s Hospital, Tallinn, Estonia
173 rdf:type schema:Organization
174 N60d34ff6bd734dbb8b100f56233c088d rdf:first sg:person.0650041027.60
175 rdf:rest Nf8096675ee184bdca77e345454b5f6b8
176 N6129d8886e1140d8aa7678b4d5c7babf rdf:first sg:person.01241160520.34
177 rdf:rest N0712eed3054f45d698e94eda5598a9b4
178 N65d5aacd6a124c86a945ab216ab641e8 rdf:first sg:person.0717166222.25
179 rdf:rest N11c299abf7314552a25037a3c5bed33b
180 N66faa06da1004eeeaa27bc19f88a2d3e schema:affiliation https://www.grid.ac/institutes/grid.411439.a
181 schema:familyName Nava
182 schema:givenName Caroline
183 rdf:type schema:Person
184 N673ebb25104e46158d9bf029e4a1ecd7 schema:affiliation N077b0d96c0e54cb7beb27132fc5f674b
185 schema:familyName Chipaux
186 schema:givenName Mathilde
187 rdf:type schema:Person
188 N67b33c4816af48e49c30dfccbdf5edd9 schema:name Bethel Epilepsy Centre, Bielefeld, Germany
189 rdf:type schema:Organization
190 N686d3d4db3d44c6a9353a6927bd47db2 schema:name Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Neurogenetics Research Group, Laarbeeklaan 101, 1090, Brussels, Belgium
191 rdf:type schema:Organization
192 N69a07416ea024a5a9f2e0d49f22e76e1 rdf:first sg:person.01005450554.24
193 rdf:rest N2c9769bdaf3c46219a227fb5a5a3673d
194 N707194e251c54b65bbe85da992e740a0 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
195 schema:familyName Baldassari
196 schema:givenName Sara
197 rdf:type schema:Person
198 N70e56eb04c8e4d38a8f258596f476b14 schema:name Department of Pediatric Neurology, Rady Children’s Hospital/University of California, San Diego, California, USA
199 rdf:type schema:Organization
200 N70f9c798e72949a598441f0e3feecfd0 rdf:first sg:person.0712222752.28
201 rdf:rest N9a370ca729d0493485e900c5a4c05a32
202 N77681a40334c4085bfd2097ec289ceb1 schema:name Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Neurogenetics Research Group, Laarbeeklaan 101, 1090, Brussels, Belgium
203 rdf:type schema:Organization
204 N7781cf08ac20452f8a1e8b08e03f5f2c rdf:first sg:person.016210202567.38
205 rdf:rest N96986088d19845599ffb9301c6a2ff26
206 N77c16ca75dbb4660a3eddac5c27f93ec rdf:first sg:person.01170501463.61
207 rdf:rest Nf8d2733218944ff3a8616782b74b2a6e
208 N79b5cc4d24314331878c85f3f191b9f8 rdf:first sg:person.015332132710.81
209 rdf:rest N6129d8886e1140d8aa7678b4d5c7babf
210 N7c8e0becc9964b13b0416d379eb291ed rdf:first sg:person.01122202007.25
211 rdf:rest N36f053293ba848ae84a7bf521ebcbb93
212 N7e66b411ecff452cbee85bac7778bb71 rdf:first sg:person.013502653610.16
213 rdf:rest Nb7249e71bfb648168d22dfabe8f91d5f
214 N7fd6d473532d414b9ecdd8317fda585f schema:affiliation N48201a1ab704494eb739c354f7c2aa86
215 schema:familyName Lebre
216 schema:givenName Anne-Sophie
217 rdf:type schema:Person
218 N80b3881f706a4e42b8bde25a1104501a schema:affiliation Nda3c249b4bd74194b1d4cd33d5164e86
219 schema:familyName Nordli
220 schema:givenName Douglas R
221 rdf:type schema:Person
222 N80c2106221ec408b945e38c36227f5b4 schema:issueNumber 2
223 rdf:type schema:PublicationIssue
224 N83fffab8e6e04573a07f517ad99a8e41 rdf:first sg:person.01023605443.27
225 rdf:rest N268804ddbc6e48db98c0777abfbf1301
226 N84d4fe5aee7f443992aa4f70fe0b8948 schema:name Clinique Bernoise, Crans-, Montana, Switzerland
227 rdf:type schema:Organization
228 N8bcc422e16994e309357de5a298f79df rdf:first N707194e251c54b65bbe85da992e740a0
229 rdf:rest N1a0b0c1733194c16a3d5b9beb6fc64be
230 N928225596a76461d88e9aac772b477f0 rdf:first N7fd6d473532d414b9ecdd8317fda585f
231 rdf:rest Nebe3405c572241b98f8c6aaef4ec7ac3
232 N94d4c1475af642059fd1edbc8093efa6 rdf:first sg:person.0652436240.15
233 rdf:rest Nf7b8e22377d44a74825d0b6792df93bd
234 N96986088d19845599ffb9301c6a2ff26 rdf:first sg:person.01200013171.39
235 rdf:rest N490ecba80053499c87ff88ea90df7e03
236 N9a0e9317f3bb4316b4e8db49cade884b rdf:first sg:person.013226624020.93
237 rdf:rest N65d5aacd6a124c86a945ab216ab641e8
238 N9a370ca729d0493485e900c5a4c05a32 rdf:first N66faa06da1004eeeaa27bc19f88a2d3e
239 rdf:rest N1e4a211f59aa4c3da803b19cb24dfb59
240 N9d27ef1e658d47e59a0da8a2309f53a9 rdf:first sg:person.01325521277.37
241 rdf:rest rdf:nil
242 N9e16c3a836f646fb82de5154535daa40 rdf:first sg:person.0626031167.42
243 rdf:rest Nbdfc9aff89df48ba828668157ac5e064
244 N9ee8a286a0784a1b9e9d323900739120 rdf:first sg:person.011017403110.47
245 rdf:rest N31c373e9193a48f4a5b281ff46e9cad5
246 Na262da078ad2406bb95d9f6312bcd279 rdf:first sg:person.013141611310.20
247 rdf:rest N40d67f28b6ed4bd19f38c45c60620700
248 Na2883c3805c949ff95223c29a7ede2f2 rdf:first sg:person.01305501031.15
249 rdf:rest Nf0e3aec54aca430bb1bd69c248972af6
250 Na291feea30704da0be337a52ab84e25c rdf:first N80b3881f706a4e42b8bde25a1104501a
251 rdf:rest N3db213ab85f94c1e82a14fae961c103c
252 Na583231e553949009eea63af90963802 rdf:first sg:person.01007566751.22
253 rdf:rest Nc26047769ed149bca9fb434f25cd2e1c
254 Nb0eba68c0d684cc89cc41f1190083558 rdf:first sg:person.01027374606.04
255 rdf:rest N5346739de980419a8d9ed74fc6548c60
256 Nb18c5c31416241d6bab3df7f4437169a schema:affiliation N06c10b57d1fb4d2a89d38d6bba17ee46
257 schema:familyName Kiss
258 schema:givenName Courtney
259 rdf:type schema:Person
260 Nb69d87e3f3b5426d8b4e10e9391e8956 schema:name Department of Clinical Neurosciences, University Hospitals and Medical School of Geneva, Geneva, Switzerland
261 rdf:type schema:Organization
262 Nb7249e71bfb648168d22dfabe8f91d5f rdf:first sg:person.01171004731.72
263 rdf:rest N60263e2bbbce485d8673fba6c5ba8d8e
264 Nb7e49e99f95b4824851e14f733e95a48 schema:name Epilepsy Center for Children, Brandenburg Medical School, University Hospital, Neuruppin, Germany
265 rdf:type schema:Organization
266 Nbbaaddc285f2488fa4797c9913b7ab6c rdf:first sg:person.01103574711.37
267 rdf:rest N7c8e0becc9964b13b0416d379eb291ed
268 Nbdfc9aff89df48ba828668157ac5e064 rdf:first N0fe159fceaee473ca3da94100a62be1c
269 rdf:rest N37d7f50d56e9474f86936db0b49aa16f
270 Nc19ee5b8ef5045668cef32007653afe5 rdf:first sg:person.01327625652.71
271 rdf:rest N394b7cf7085142b79a4cca071ae17793
272 Nc26047769ed149bca9fb434f25cd2e1c rdf:first sg:person.01265043643.33
273 rdf:rest N46077594e066431ea141bd1ef290eea3
274 Nc2cc35513a8041b9aa324f46f88702b5 rdf:first sg:person.01035444303.51
275 rdf:rest Nca076a8435af40c88f9bd1d61b5b03d2
276 Nc9021d4b042a4ae18c7d30fd58959849 schema:name Kinderneurologisches Zentrum, Düsseldorf-Gerresheim, Sana Kliniken, Düsseldorf, Germany
277 rdf:type schema:Organization
278 Nca076a8435af40c88f9bd1d61b5b03d2 rdf:first sg:person.012705273210.99
279 rdf:rest N7e66b411ecff452cbee85bac7778bb71
280 Nca67a8e09ce84e18b477cff7d997374c rdf:first sg:person.010153707310.45
281 rdf:rest N322aa83279d74280ad6ef4ab55567341
282 Ncb150e2c6f354f118150a6c4a76f6fe9 rdf:first sg:person.0617164055.43
283 rdf:rest Nd12187f18bef4796b9e7038dc96432ce
284 Nd12187f18bef4796b9e7038dc96432ce rdf:first sg:person.0605051366.45
285 rdf:rest N928225596a76461d88e9aac772b477f0
286 Nd2647d3b6c3a424abf8d57d46d584b9d rdf:first sg:person.013665215410.73
287 rdf:rest N340e81b957144c1489a8ec7650016912
288 Nd56fa10d2c164451bd424fc629dd565c rdf:first sg:person.0747104100.22
289 rdf:rest N4dc60cf123fe44249f0f57be5f2dc8ff
290 Nd7ca1fca8fe84b18b719bc73d43d56fa rdf:first sg:person.01234224017.40
291 rdf:rest N83fffab8e6e04573a07f517ad99a8e41
292 Nd9cd278795a140628e27a3b6efb58a88 rdf:first sg:person.011546650310.68
293 rdf:rest N52b9d43b0ce74473949e039c0134e490
294 Nda3c249b4bd74194b1d4cd33d5164e86 schema:name Children’s Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA
295 rdf:type schema:Organization
296 Nda6097b91568488487c6b01fa5f92d07 schema:name Department of Neurology, Academic Center for Epileptology Kempenhaeghe, Heeze, The Netherlands
297 rdf:type schema:Organization
298 Ndca076f5526b443889a48f185ab3b470 rdf:first sg:person.0643001733.27
299 rdf:rest Na291feea30704da0be337a52ab84e25c
300 Ne2e0391aafe241cea459aca53f427349 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
301 schema:familyName Leguern
302 schema:givenName Eric
303 rdf:type schema:Person
304 Ne3e22bfa42ab4f1a92d0f64ca4f3c68b rdf:first sg:person.012761006064.78
305 rdf:rest N17be2e39b6bb4e8eaad95242f611325c
306 Ne492e181b57b43ada8fe12fe15854450 schema:name nlm_unique_id
307 schema:value 9815831
308 rdf:type schema:PropertyValue
309 Ne9e83bb1a45840638bec20c262bd06bd rdf:first sg:person.013552615013.74
310 rdf:rest N1ee2b23c6f504ffb878673460ef73e5e
311 Nebe3405c572241b98f8c6aaef4ec7ac3 rdf:first sg:person.01125176267.21
312 rdf:rest Nf350a95a7853482eb50c30cf9e964f57
313 Ned1f293175ba41278800562b1f313d25 schema:name doi
314 schema:value 10.1038/s41436-018-0060-2
315 rdf:type schema:PropertyValue
316 Nf0e3aec54aca430bb1bd69c248972af6 rdf:first sg:person.01356741203.05
317 rdf:rest Nd56fa10d2c164451bd424fc629dd565c
318 Nf350a95a7853482eb50c30cf9e964f57 rdf:first sg:person.01305545771.44
319 rdf:rest Ndca076f5526b443889a48f185ab3b470
320 Nf4d3eda08cfe423babdf751ce3d4eb88 schema:name Springer Nature - SN SciGraph project
321 rdf:type schema:Organization
322 Nf7b8e22377d44a74825d0b6792df93bd rdf:first sg:person.01332473432.48
323 rdf:rest Na583231e553949009eea63af90963802
324 Nf8096675ee184bdca77e345454b5f6b8 rdf:first sg:person.016306214010.29
325 rdf:rest N94d4c1475af642059fd1edbc8093efa6
326 Nf8d2733218944ff3a8616782b74b2a6e rdf:first sg:person.01043074652.15
327 rdf:rest N27b9d7f3a0cd4960ac9fa7383939dc4b
328 Nf9c16c85cff544bfb5920a40f209ef52 schema:name pubmed_id
329 schema:value 30093711
330 rdf:type schema:PropertyValue
331 Nfdfb143927634eb992a2307aa5781618 rdf:first sg:person.01136604762.52
332 rdf:rest N5b6d1a68aa524f23bcd64a464188173c
333 Nff5553d7a0b949e6be1aff1ca5ed7947 rdf:first sg:person.0670174435.52
334 rdf:rest Ne9e83bb1a45840638bec20c262bd06bd
335 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
336 schema:name Medical and Health Sciences
337 rdf:type schema:DefinedTerm
338 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
339 schema:name Neurosciences
340 rdf:type schema:DefinedTerm
341 sg:grant.6447131 http://pending.schema.org/fundedItem sg:pub.10.1038/s41436-018-0060-2
342 rdf:type schema:MonetaryGrant
343 sg:journal.1119411 schema:issn 1098-3600
344 1530-0366
345 schema:name Genetics in Medicine
346 rdf:type schema:Periodical
347 sg:person.01002300232.04 schema:affiliation Nb69d87e3f3b5426d8b4e10e9391e8956
348 schema:familyName Picard
349 schema:givenName Fabienne
350 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002300232.04
351 rdf:type schema:Person
352 sg:person.01005036505.31 schema:affiliation https://www.grid.ac/institutes/grid.463994.5
353 schema:familyName Achaz
354 schema:givenName Guillaume
355 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01005036505.31
356 rdf:type schema:Person
357 sg:person.01005450554.24 schema:affiliation https://www.grid.ac/institutes/grid.31151.37
358 schema:familyName Darmency
359 schema:givenName Veronique
360 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01005450554.24
361 rdf:type schema:Person
362 sg:person.01007566751.22 schema:affiliation https://www.grid.ac/institutes/grid.412311.4
363 schema:familyName Pippucci
364 schema:givenName Tommaso
365 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01007566751.22
366 rdf:type schema:Person
367 sg:person.010153707310.45 schema:affiliation N84d4fe5aee7f443992aa4f70fe0b8948
368 schema:familyName Dorn
369 schema:givenName Thomas
370 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010153707310.45
371 rdf:type schema:Person
372 sg:person.01015451371.13 schema:affiliation https://www.grid.ac/institutes/grid.7692.a
373 schema:familyName Verbeek
374 schema:givenName Nienke E.
375 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01015451371.13
376 rdf:type schema:Person
377 sg:person.010222022510.93 schema:affiliation N2f7b6c91236d4f7c9b581a051e100a2d
378 schema:familyName Zacher
379 schema:givenName Pia
380 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010222022510.93
381 rdf:type schema:Person
382 sg:person.01023605443.27 schema:affiliation https://www.grid.ac/institutes/grid.419298.f
383 schema:familyName Hagebeuk
384 schema:givenName Eveline
385 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023605443.27
386 rdf:type schema:Person
387 sg:person.01027374606.04 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
388 schema:familyName Balestrini
389 schema:givenName Simona
390 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027374606.04
391 rdf:type schema:Person
392 sg:person.01035444303.51 schema:affiliation https://www.grid.ac/institutes/grid.7692.a
393 schema:familyName Jansen
394 schema:givenName Floor E.
395 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035444303.51
396 rdf:type schema:Person
397 sg:person.01037610071.33 schema:affiliation https://www.grid.ac/institutes/grid.11843.3f
398 schema:familyName Chelly
399 schema:givenName Jamel
400 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037610071.33
401 rdf:type schema:Person
402 sg:person.01043074652.15 schema:affiliation https://www.grid.ac/institutes/grid.5613.1
403 schema:familyName Thevenon
404 schema:givenName Julien
405 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043074652.15
406 rdf:type schema:Person
407 sg:person.01074152112.73 schema:affiliation https://www.grid.ac/institutes/grid.11843.3f
408 schema:familyName Rudolf
409 schema:givenName Gabrielle
410 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01074152112.73
411 rdf:type schema:Person
412 sg:person.01100231016.39 schema:affiliation https://www.grid.ac/institutes/grid.419298.f
413 schema:familyName Gunning
414 schema:givenName Boudewijn
415 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01100231016.39
416 rdf:type schema:Person
417 sg:person.011017403110.47 schema:affiliation Nc9021d4b042a4ae18c7d30fd58959849
418 schema:familyName Becher
419 schema:givenName Thomas
420 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011017403110.47
421 rdf:type schema:Person
422 sg:person.01103574711.37 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
423 schema:familyName Yuskaitis
424 schema:givenName Christopher J.
425 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103574711.37
426 rdf:type schema:Person
427 sg:person.01116425163.70 schema:affiliation https://www.grid.ac/institutes/grid.417276.1
428 schema:familyName Lindstrom
429 schema:givenName Kristin
430 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116425163.70
431 rdf:type schema:Person
432 sg:person.01122202007.25 schema:affiliation https://www.grid.ac/institutes/grid.5284.b
433 schema:familyName Weckhuysen
434 schema:givenName Sarah
435 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01122202007.25
436 rdf:type schema:Person
437 sg:person.01125176267.21 schema:affiliation https://www.grid.ac/institutes/grid.139510.f
438 schema:familyName Jennesson
439 schema:givenName Mélanie
440 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01125176267.21
441 rdf:type schema:Person
442 sg:person.01126056322.97 schema:affiliation https://www.grid.ac/institutes/grid.419298.f
443 schema:familyName Wegner
444 schema:givenName Ilse
445 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01126056322.97
446 rdf:type schema:Person
447 sg:person.01136604762.52 schema:affiliation https://www.grid.ac/institutes/grid.9647.c
448 schema:familyName Lemke
449 schema:givenName Johannes R.
450 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136604762.52
451 rdf:type schema:Person
452 sg:person.011546650310.68 schema:affiliation Nb7e49e99f95b4824851e14f733e95a48
453 schema:familyName Müller-Schlüter
454 schema:givenName Karen
455 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011546650310.68
456 rdf:type schema:Person
457 sg:person.01170501463.61 schema:affiliation https://www.grid.ac/institutes/grid.31151.37
458 schema:familyName Ricard-Mousnier
459 schema:givenName Brigitte
460 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01170501463.61
461 rdf:type schema:Person
462 sg:person.01171004731.72 schema:affiliation https://www.grid.ac/institutes/grid.452376.1
463 schema:familyName Rubboli
464 schema:givenName Guido
465 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01171004731.72
466 rdf:type schema:Person
467 sg:person.01171150147.71 schema:affiliation N77681a40334c4085bfd2097ec289ceb1
468 schema:familyName Stouffs
469 schema:givenName Katrien
470 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01171150147.71
471 rdf:type schema:Person
472 sg:person.01200013171.39 schema:affiliation https://www.grid.ac/institutes/grid.7692.a
473 schema:familyName Brilstra
474 schema:givenName Eva H.
475 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200013171.39
476 rdf:type schema:Person
477 sg:person.01234224017.40 schema:affiliation https://www.grid.ac/institutes/grid.7692.a
478 schema:familyName Oegema
479 schema:givenName Renske
480 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234224017.40
481 rdf:type schema:Person
482 sg:person.012344230710.51 schema:affiliation N21492b347e324b41a90e6502e28fcf1b
483 schema:familyName Brandt
484 schema:givenName Christian
485 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012344230710.51
486 rdf:type schema:Person
487 sg:person.01237661366.90 schema:affiliation https://www.grid.ac/institutes/grid.5613.1
488 schema:familyName Faivre
489 schema:givenName Laurence
490 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237661366.90
491 rdf:type schema:Person
492 sg:person.01241160520.34 schema:affiliation https://www.grid.ac/institutes/grid.412581.b
493 schema:familyName Rostasy
494 schema:givenName Kevin
495 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241160520.34
496 rdf:type schema:Person
497 sg:person.012571044610.11 schema:affiliation https://www.grid.ac/institutes/grid.412220.7
498 schema:familyName Hirsch
499 schema:givenName Edouard
500 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012571044610.11
501 rdf:type schema:Person
502 sg:person.012637160010.41 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
503 schema:familyName Hernandez-Hernandez
504 schema:givenName Laura
505 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012637160010.41
506 rdf:type schema:Person
507 sg:person.01265043643.33 schema:affiliation https://www.grid.ac/institutes/grid.6292.f
508 schema:familyName Tinuper
509 schema:givenName Paolo
510 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265043643.33
511 rdf:type schema:Person
512 sg:person.012705273210.99 schema:affiliation https://www.grid.ac/institutes/grid.7692.a
513 schema:familyName Braun
514 schema:givenName Kees
515 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012705273210.99
516 rdf:type schema:Person
517 sg:person.012761006064.78 schema:affiliation https://www.grid.ac/institutes/grid.419298.f
518 schema:familyName Deckers
519 schema:givenName Charles
520 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012761006064.78
521 rdf:type schema:Person
522 sg:person.01305501031.15 schema:affiliation https://www.grid.ac/institutes/grid.411266.6
523 schema:familyName Bartolomei
524 schema:givenName Fabrice
525 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305501031.15
526 rdf:type schema:Person
527 sg:person.01305545771.44 schema:affiliation N70e56eb04c8e4d38a8f258596f476b14
528 schema:familyName Sattar
529 schema:givenName Shifteh
530 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305545771.44
531 rdf:type schema:Person
532 sg:person.01307177531.15 schema:affiliation https://www.grid.ac/institutes/grid.411544.1
533 schema:familyName Wolff
534 schema:givenName Markus
535 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307177531.15
536 rdf:type schema:Person
537 sg:person.013141611310.20 schema:affiliation https://www.grid.ac/institutes/grid.9647.c
538 schema:familyName Krey
539 schema:givenName Ilona
540 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013141611310.20
541 rdf:type schema:Person
542 sg:person.013226624020.93 schema:affiliation https://www.grid.ac/institutes/grid.411489.1
543 schema:familyName Gambardella
544 schema:givenName Antonio
545 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013226624020.93
546 rdf:type schema:Person
547 sg:person.01325521277.37 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
548 schema:familyName Baulac
549 schema:givenName Stéphanie
550 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325521277.37
551 rdf:type schema:Person
552 sg:person.01327625652.71 schema:affiliation https://www.grid.ac/institutes/grid.412220.7
553 schema:familyName de Saint Martin
554 schema:givenName Anne
555 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327625652.71
556 rdf:type schema:Person
557 sg:person.01332473432.48 schema:affiliation https://www.grid.ac/institutes/grid.6292.f
558 schema:familyName Licchetta
559 schema:givenName Laura
560 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01332473432.48
561 rdf:type schema:Person
562 sg:person.013434540410.34 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
563 schema:familyName Krithika
564 schema:givenName S.
565 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013434540410.34
566 rdf:type schema:Person
567 sg:person.013502653610.16 schema:affiliation Nda6097b91568488487c6b01fa5f92d07
568 schema:familyName de Jong
569 schema:givenName Daniëlle
570 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013502653610.16
571 rdf:type schema:Person
572 sg:person.013552615013.74 schema:affiliation https://www.grid.ac/institutes/grid.410356.5
573 schema:familyName Lomax
574 schema:givenName Lysa Boissé
575 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013552615013.74
576 rdf:type schema:Person
577 sg:person.01356741203.05 schema:affiliation https://www.grid.ac/institutes/grid.411266.6
578 schema:familyName Lepine
579 schema:givenName Anne Fabienne
580 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01356741203.05
581 rdf:type schema:Person
582 sg:person.013665215410.73 schema:affiliation N686d3d4db3d44c6a9353a6927bd47db2
583 schema:familyName Jansen
584 schema:givenName Anna
585 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013665215410.73
586 rdf:type schema:Person
587 sg:person.014463077420.58 schema:affiliation https://www.grid.ac/institutes/grid.412826.b
588 schema:familyName Benova
589 schema:givenName Barbora
590 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014463077420.58
591 rdf:type schema:Person
592 sg:person.015113012507.51 schema:affiliation https://www.grid.ac/institutes/grid.461862.f
593 schema:familyName Lesca
594 schema:givenName Gaetan
595 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015113012507.51
596 rdf:type schema:Person
597 sg:person.015332132710.81 schema:affiliation https://www.grid.ac/institutes/grid.412581.b
598 schema:familyName Balci
599 schema:givenName Meral
600 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015332132710.81
601 rdf:type schema:Person
602 sg:person.015400246110.04 schema:affiliation https://www.grid.ac/institutes/grid.10825.3e
603 schema:familyName Møller
604 schema:givenName Rikke S.
605 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015400246110.04
606 rdf:type schema:Person
607 sg:person.015673175210.39 schema:affiliation N4b7c4089e3e7400eac928f5d06213dad
608 schema:familyName Sander
609 schema:givenName Valentin
610 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015673175210.39
611 rdf:type schema:Person
612 sg:person.016210202567.38 schema:affiliation https://www.grid.ac/institutes/grid.7692.a
613 schema:familyName van Kempen
614 schema:givenName Marjan
615 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016210202567.38
616 rdf:type schema:Person
617 sg:person.016306214010.29 schema:affiliation https://www.grid.ac/institutes/grid.413181.e
618 schema:familyName Guerrini
619 schema:givenName Renzo
620 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016306214010.29
621 rdf:type schema:Person
622 sg:person.0600243624.64 schema:affiliation N604a173809024d109191f6f67c74d4b4
623 schema:familyName Talvik
624 schema:givenName Inga
625 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600243624.64
626 rdf:type schema:Person
627 sg:person.0604176312.15 schema:affiliation N09942147a99a4638bfa3570ee175fe41
628 schema:familyName Cloppenborg
629 schema:givenName Thomas
630 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604176312.15
631 rdf:type schema:Person
632 sg:person.0605051366.45 schema:affiliation https://www.grid.ac/institutes/grid.411154.4
633 schema:familyName Biraben
634 schema:givenName Arnaud
635 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0605051366.45
636 rdf:type schema:Person
637 sg:person.0617164055.43 schema:affiliation https://www.grid.ac/institutes/grid.412826.b
638 schema:familyName Krsek
639 schema:givenName Pavel
640 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0617164055.43
641 rdf:type schema:Person
642 sg:person.0626031167.42 schema:affiliation N120cf207bcb34410a76d8644f0614082
643 schema:familyName Ferrand-Sorbets
644 schema:givenName Sarah
645 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0626031167.42
646 rdf:type schema:Person
647 sg:person.0640212647.50 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
648 schema:familyName de Bellescize
649 schema:givenName Julitta
650 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0640212647.50
651 rdf:type schema:Person
652 sg:person.0641634757.10 schema:affiliation https://www.grid.ac/institutes/grid.419298.f
653 schema:familyName Berghuis
654 schema:givenName Bianca
655 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641634757.10
656 rdf:type schema:Person
657 sg:person.0642132311.10 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
658 schema:familyName Catenoix
659 schema:givenName Hélène
660 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642132311.10
661 rdf:type schema:Person
662 sg:person.0642462667.97 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
663 schema:familyName Panagiotakaki
664 schema:givenName Eleni
665 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642462667.97
666 rdf:type schema:Person
667 sg:person.0643001733.27 schema:affiliation https://www.grid.ac/institutes/grid.42399.35
668 schema:familyName Marchal
669 schema:givenName Cécile
670 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643001733.27
671 rdf:type schema:Person
672 sg:person.0650041027.60 schema:affiliation https://www.grid.ac/institutes/grid.413181.e
673 schema:familyName Conti
674 schema:givenName Valerio
675 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650041027.60
676 rdf:type schema:Person
677 sg:person.0652436240.15 schema:affiliation https://www.grid.ac/institutes/grid.6292.f
678 schema:familyName Bisulli
679 schema:givenName Francesca
680 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0652436240.15
681 rdf:type schema:Person
682 sg:person.0656631331.10 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
683 schema:familyName Poduri
684 schema:givenName Annapurna
685 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656631331.10
686 rdf:type schema:Person
687 sg:person.0662450353.39 schema:affiliation N67b33c4816af48e49c30dfccbdf5edd9
688 schema:familyName Polster
689 schema:givenName Tilman
690 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662450353.39
691 rdf:type schema:Person
692 sg:person.0670174435.52 schema:affiliation N3abe019298634a8e968554ab107d8392
693 schema:familyName Striano
694 schema:givenName Pasquale
695 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0670174435.52
696 rdf:type schema:Person
697 sg:person.0706064541.84 schema:affiliation https://www.grid.ac/institutes/grid.411492.b
698 schema:familyName Crichiutti
699 schema:givenName Giovanni
700 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706064541.84
701 rdf:type schema:Person
702 sg:person.0712222752.28 schema:affiliation https://www.grid.ac/institutes/grid.440886.6
703 schema:familyName Jacquemont
704 schema:givenName Marie-Line
705 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712222752.28
706 rdf:type schema:Person
707 sg:person.0717166222.25 schema:affiliation https://www.grid.ac/institutes/grid.10796.39
708 schema:familyName d’Orsi
709 schema:givenName Giuseppe
710 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717166222.25
711 rdf:type schema:Person
712 sg:person.0731232516.37 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
713 schema:familyName Sisodiya
714 schema:givenName Sanjay
715 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731232516.37
716 rdf:type schema:Person
717 sg:person.0734301664.89 schema:affiliation https://www.grid.ac/institutes/grid.411175.7
718 schema:familyName Julia
719 schema:givenName Sophie
720 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734301664.89
721 rdf:type schema:Person
722 sg:person.0737620071.06 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
723 schema:familyName Niks
724 schema:givenName Erik
725 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737620071.06
726 rdf:type schema:Person
727 sg:person.0747104100.22 schema:affiliation https://www.grid.ac/institutes/grid.411414.5
728 schema:familyName Schoonjans
729 schema:givenName An-Sofie
730 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747104100.22
731 rdf:type schema:Person
732 sg:person.0757425675.10 schema:affiliation https://www.grid.ac/institutes/grid.452376.1
733 schema:familyName Uldall
734 schema:givenName Peter
735 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0757425675.10
736 rdf:type schema:Person
737 sg:person.0773476645.92 schema:affiliation https://www.grid.ac/institutes/grid.411559.d
738 schema:familyName Zenker
739 schema:givenName Martin
740 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773476645.92
741 rdf:type schema:Person
742 sg:person.0777641155.31 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
743 schema:familyName Schoeler
744 schema:givenName Natasha
745 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0777641155.31
746 rdf:type schema:Person
747 sg:pub.10.1038/gim.2015.30 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022229472
748 https://doi.org/10.1038/gim.2015.30
749 rdf:type schema:CreativeWork
750 sg:pub.10.1038/gim.2017.218 schema:sameAs https://app.dimensions.ai/details/publication/pub.1100161480
751 https://doi.org/10.1038/gim.2017.218
752 rdf:type schema:CreativeWork
753 sg:pub.10.1038/gim.2017.37 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085387500
754 https://doi.org/10.1038/gim.2017.37
755 rdf:type schema:CreativeWork
756 sg:pub.10.1038/nature19057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022281897
757 https://doi.org/10.1038/nature19057
758 rdf:type schema:CreativeWork
759 sg:pub.10.1038/nature26158 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101795552
760 https://doi.org/10.1038/nature26158
761 rdf:type schema:CreativeWork
762 sg:pub.10.1038/ng.2599 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024759071
763 https://doi.org/10.1038/ng.2599
764 rdf:type schema:CreativeWork
765 sg:pub.10.1038/ng.2601 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012627858
766 https://doi.org/10.1038/ng.2601
767 rdf:type schema:CreativeWork
768 sg:pub.10.1038/ng.3703 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046660279
769 https://doi.org/10.1038/ng.3703
770 rdf:type schema:CreativeWork
771 sg:pub.10.1038/s41598-017-12574-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092015779
772 https://doi.org/10.1038/s41598-017-12574-2
773 rdf:type schema:CreativeWork
774 https://doi.org/10.1002/acn3.191 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032656556
775 rdf:type schema:CreativeWork
776 https://doi.org/10.1002/ana.24126 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034589148
777 rdf:type schema:CreativeWork
778 https://doi.org/10.1002/ana.24127 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039876952
779 rdf:type schema:CreativeWork
780 https://doi.org/10.1002/ana.24357 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030523483
781 rdf:type schema:CreativeWork
782 https://doi.org/10.1002/ana.24368 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012299695
783 rdf:type schema:CreativeWork
784 https://doi.org/10.1002/ana.24502 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008795159
785 rdf:type schema:CreativeWork
786 https://doi.org/10.1002/ana.24547 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032180337
787 rdf:type schema:CreativeWork
788 https://doi.org/10.1002/ana.24596 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052355099
789 rdf:type schema:CreativeWork
790 https://doi.org/10.1016/bs.pbr.2016.04.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021057730
791 rdf:type schema:CreativeWork
792 https://doi.org/10.1016/j.eplepsyres.2016.10.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037583929
793 rdf:type schema:CreativeWork
794 https://doi.org/10.1016/j.nbd.2016.02.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050812171
795 rdf:type schema:CreativeWork
796 https://doi.org/10.1016/j.nbd.2017.12.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1099731058
797 rdf:type schema:CreativeWork
798 https://doi.org/10.1016/s1474-4422(16)30158-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027251582
799 rdf:type schema:CreativeWork
800 https://doi.org/10.1056/nejmoa1703784 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092350171
801 rdf:type schema:CreativeWork
802 https://doi.org/10.1080/14728222.2017.1316715 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084819499
803 rdf:type schema:CreativeWork
804 https://doi.org/10.1093/nar/gkw1121 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041474443
805 rdf:type schema:CreativeWork
806 https://doi.org/10.1111/epi.13391 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032885003
807 rdf:type schema:CreativeWork
808 https://doi.org/10.1111/j.1528-1167.2011.03358.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1045275183
809 rdf:type schema:CreativeWork
810 https://doi.org/10.1126/science.1232044 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022622417
811 rdf:type schema:CreativeWork
812 https://doi.org/10.1172/jci99384 schema:sameAs https://app.dimensions.ai/details/publication/pub.1103690912
813 rdf:type schema:CreativeWork
814 https://doi.org/10.1212/nxg.0000000000000016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050953852
815 rdf:type schema:CreativeWork
816 https://doi.org/10.1212/nxg.0000000000000028 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039670133
817 rdf:type schema:CreativeWork
818 https://doi.org/10.1212/wnl.0000000000000488 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064352204
819 rdf:type schema:CreativeWork
820 https://doi.org/10.1212/wnl.0000000000003685 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085256838
821 rdf:type schema:CreativeWork
822 https://doi.org/10.1212/wnl.0b013e31826c1b55 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035748694
823 rdf:type schema:CreativeWork
824 https://doi.org/10.3389/fped.2017.00219 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092188484
825 rdf:type schema:CreativeWork
826 https://www.grid.ac/institutes/grid.10419.3d schema:alternateName Leiden University Medical Center
827 schema:name Leiden University Medical Center, Leiden, The Netherlands
828 rdf:type schema:Organization
829 https://www.grid.ac/institutes/grid.10796.39 schema:alternateName University of Foggia
830 schema:name Epilepsy Center, Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy
831 rdf:type schema:Organization
832 https://www.grid.ac/institutes/grid.10825.3e schema:alternateName University of Southern Denmark
833 schema:name Danish Epilepsy Centre, Dianalund; Institute for Regional Health research, University of Southern Denmark, Odense, Denmark
834 rdf:type schema:Organization
835 https://www.grid.ac/institutes/grid.11843.3f schema:alternateName University of Strasbourg
836 schema:name IGBMC, INSERM, CNRS, Strasbourg University, Strasbourg, France
837 rdf:type schema:Organization
838 https://www.grid.ac/institutes/grid.139510.f schema:alternateName Centre Hospitalier Universitaire De Reims
839 schema:name CHU Reims, American Memorial Hospital, Service de Pédiatrie, F-51092, REIMS, France
840 rdf:type schema:Organization
841 https://www.grid.ac/institutes/grid.31151.37 schema:alternateName Centre Hospitalier Regional Universitaire De Dijon
842 schema:name Service de neurophysiologie et pédiatrie 1, CHU de Dijon, Dijon, France
843 Unité d’épileptologie, Service de Neurologie, CHU, 49033, Angers, France
844 rdf:type schema:Organization
845 https://www.grid.ac/institutes/grid.38142.3c schema:alternateName Harvard University
846 schema:name Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Boston, Massachusetts, USA
847 Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA
848 Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children’s Hospital, Boston, Massachusetts, USA
849 rdf:type schema:Organization
850 https://www.grid.ac/institutes/grid.410356.5 schema:alternateName Queen's University
851 schema:name Department of Medicine, Divisions of Neurology and Respirology, Queen’s University, Kingston, Ontario, Canada
852 Kingston Health Sciences Centre, K7L 2V7, Kingston, Ontario, Canada
853 rdf:type schema:Organization
854 https://www.grid.ac/institutes/grid.411154.4 schema:alternateName Centre Hospitalier Universitaire de Rennes
855 schema:name Centre Hospitalier Universitaire de Rennes, F-35000, Rennes, France
856 rdf:type schema:Organization
857 https://www.grid.ac/institutes/grid.411175.7 schema:alternateName Centre Hospitalier Universitaire de Toulouse
858 schema:name Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan CHU Toulouse, Toulouse, France
859 rdf:type schema:Organization
860 https://www.grid.ac/institutes/grid.411266.6 schema:alternateName Hôpital de la Timone
861 schema:name Pediatric Neurology Department, Timone Hospital, APHM, Marseille, France
862 rdf:type schema:Organization
863 https://www.grid.ac/institutes/grid.411414.5 schema:alternateName Antwerp University Hospital
864 schema:name Department of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium
865 rdf:type schema:Organization
866 https://www.grid.ac/institutes/grid.411439.a schema:alternateName Pitié-Salpêtrière Hospital
867 schema:name CNRS, UMR 7225, F-75013, Paris, France
868 Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, F-75013, Paris, France
869 INSERM, U1127, F-75013, Paris, France
870 Institut du Cerveau et de la Moelle épinière (ICM), Hôpital Pitié-Salpêtrière, F-75013, Paris, France
871 Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France
872 rdf:type schema:Organization
873 https://www.grid.ac/institutes/grid.411489.1 schema:alternateName Magna Graecia University
874 schema:name Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Græcia, Catanzaro, Italy
875 rdf:type schema:Organization
876 https://www.grid.ac/institutes/grid.411492.b schema:alternateName Ospedale Santa Maria della Misericordia di Udine
877 schema:name Department of Pediatrics, Institute of Medicine, University Hospital of Udine, Udine, Italy
878 rdf:type schema:Organization
879 https://www.grid.ac/institutes/grid.411544.1 schema:alternateName Universitätsklinikum Tübingen
880 schema:name Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tübingen, Germany
881 rdf:type schema:Organization
882 https://www.grid.ac/institutes/grid.411559.d schema:alternateName University Hospital Magdeburg
883 schema:name Institute of Human Genetics, University Hospital, Magdeburg, Germany
884 rdf:type schema:Organization
885 https://www.grid.ac/institutes/grid.412220.7 schema:alternateName Hôpitaux Universitaires de Strasbourg
886 schema:name Department of Neurology-centre de référence des épilepsies rares, University Hospital of Strasbourg, Strasbourg, France
887 Department of Pediatrics - centre de référence des épilepsies rares, University Hospital of Strasbourg, Strasbourg, France
888 rdf:type schema:Organization
889 https://www.grid.ac/institutes/grid.412311.4 schema:alternateName Policlinico S.Orsola-Malpighi
890 schema:name Medical Genetics Unit, Polyclinic Sant’ Orsola-Malpighi University Hospital, Bologna, Italy
891 rdf:type schema:Organization
892 https://www.grid.ac/institutes/grid.412581.b schema:alternateName Witten/Herdecke University
893 schema:name Department of Pediatric Neurology, Children’s Hospital Datteln, Witten/Herdecke University, Datteln, Germany
894 rdf:type schema:Organization
895 https://www.grid.ac/institutes/grid.412826.b schema:alternateName University Hospital in Motol
896 schema:name Department of Paediatric Neurology, Motol University Hospital, 2nd faculty of medicine Charles University, Prague, Czech Republic
897 rdf:type schema:Organization
898 https://www.grid.ac/institutes/grid.413181.e schema:alternateName Meyer Children's Hospital
899 schema:name Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children’s Hospital, Florence, Italy
900 rdf:type schema:Organization
901 https://www.grid.ac/institutes/grid.413852.9 schema:alternateName Hospices Civils de Lyon
902 schema:name Paediatric Clinical Epileptology, Sleep disorders and Functional Neurology, University Hospitals of Lyon (HCL), Lyon, France
903 rdf:type schema:Organization
904 https://www.grid.ac/institutes/grid.417276.1 schema:alternateName Phoenix Children's Hospital
905 schema:name Division of Genetics and Metabolism, Phoenix Children’s Hospital, Phoenix, Arizona, USA
906 rdf:type schema:Organization
907 https://www.grid.ac/institutes/grid.419298.f schema:alternateName Stichting Epilepsie Instellingen Nederland
908 schema:name Stichting Epilepsie Instellingen Nederland, Zwolle/Heemstede, The Netherlands
909 rdf:type schema:Organization
910 https://www.grid.ac/institutes/grid.42399.35 schema:alternateName Centre Hospitalier Universitaire de Bordeaux
911 schema:name Service d’Epileptologie Clinique, CHU de Bordeaux, France
912 rdf:type schema:Organization
913 https://www.grid.ac/institutes/grid.440886.6 schema:alternateName Centre Hospitalier Universitaire de La Réunion
914 schema:name Unit of Medical Genetics, CHU La Réunion, F-97448, Saint Pierre, France
915 rdf:type schema:Organization
916 https://www.grid.ac/institutes/grid.452376.1 schema:alternateName Filadelfia
917 schema:name Danish Epilepsy Centre, Dianalund, Denmark
918 Danish Epilepsy Centre, Dianalund, University of Copenhagen, Copenhagen, Denmark
919 rdf:type schema:Organization
920 https://www.grid.ac/institutes/grid.461862.f schema:alternateName Lyon Neuroscience Research Center
921 schema:name Service de Génétique, Hospices Civils de Lyon – GHE; CNRS UMR 5292, INSERM U1028, CNRL, et Université Claude Bernard Lyon 1, GHE, Lyon, France
922 rdf:type schema:Organization
923 https://www.grid.ac/institutes/grid.463994.5 schema:alternateName Institut de Systématique, Évolution, Biodiversité
924 schema:name Institut de Systématique, Evolution, Biodiversité, ISYEB, UMR 7205 CNRS MNHN UPMC EPHE, Paris, France
925 rdf:type schema:Organization
926 https://www.grid.ac/institutes/grid.5284.b schema:alternateName University of Antwerp
927 schema:name Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium
928 rdf:type schema:Organization
929 https://www.grid.ac/institutes/grid.5613.1 schema:alternateName University of Burgundy
930 schema:name Centre de Référence Anomalies du Développement et Syndromes Malformatifs et FHU TRANSLAD, CHU de Dijon et Université de Bourgogne, Dijon, France
931 Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, et FHU-TRANSLAD, CHU/Université de Bourgogne-Franche Comté, Dijon, France
932 rdf:type schema:Organization
933 https://www.grid.ac/institutes/grid.6292.f schema:alternateName University of Bologna
934 schema:name IRCCS, Istituto delle Scienze Neurologiche of Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
935 rdf:type schema:Organization
936 https://www.grid.ac/institutes/grid.7692.a schema:alternateName University Medical Center Utrecht
937 schema:name Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands
938 Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
939 rdf:type schema:Organization
940 https://www.grid.ac/institutes/grid.83440.3b schema:alternateName University College London
941 schema:name Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, WC1N 3BG, and Chalfont Centre for Epilepsy, Bucks, UK
942 rdf:type schema:Organization
943 https://www.grid.ac/institutes/grid.9647.c schema:alternateName Leipzig University
944 schema:name Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany
945 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...