15q13.3 microdeletions increase risk of idiopathic generalized epilepsy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-02

AUTHORS

Ingo Helbig, Heather C Mefford, Andrew J Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien de Kovel, Carl Baker, Sarah von Spiczak, Katherine L Kron, Ines Steinich, Ailing A Kleefuss-Lie, Costin Leu, Verena Gaus, Bettina Schmitz, Karl M Klein, Philipp S Reif, Felix Rosenow, Yvonne Weber, Holger Lerche, Fritz Zimprich, Lydia Urak, Karoline Fuchs, Martha Feucht, Pierre Genton, Pierre Thomas, Frank Visscher, Gerrit-Jan de Haan, Rikke S Møller, Helle Hjalgrim, Daniela Luciano, Michael Wittig, Michael Nothnagel, Christian E Elger, Peter Nürnberg, Corrado Romano, Alain Malafosse, Bobby P C Koeleman, Dick Lindhout, Ulrich Stephani, Stefan Schreiber, Evan E Eichler, Thomas Sander

ABSTRACT

We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date. More... »

PAGES

160-162

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.292

DOI

http://dx.doi.org/10.1038/ng.292

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013205747

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19136953


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