Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-07-20

AUTHORS

Hirotomo Saitsu, Miho Watanabe, Tenpei Akita, Chihiro Ohba, Kenji Sugai, Winnie Peitee Ong, Hideaki Shiraishi, Shota Yuasa, Hiroshi Matsumoto, Khoo Teik Beng, Shinji Saitoh, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto

ABSTRACT

Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the early-onset epileptic syndromes characterized by migrating polymorphous focal seizures. Whole exome sequencing (WES) in ten sporadic and one familial case of EIMFS revealed compound heterozygous SLC12A5 (encoding the neuronal K(+)-Cl(-) co-transporter KCC2) mutations in two families: c.279 + 1G > C causing skipping of exon 3 in the transcript (p.E50_Q93del) and c.572 C >T (p.A191V) in individuals 1 and 2, and c.967T > C (p.S323P) and c.1243 A > G (p.M415V) in individual 3. Another patient (individual 4) with migrating multifocal seizures and compound heterozygous mutations [c.953G > C (p.W318S) and c.2242_2244del (p.S748del)] was identified by searching WES data from 526 patients and SLC12A5-targeted resequencing data from 141 patients with infantile epilepsy. Gramicidin-perforated patch-clamp analysis demonstrated strongly suppressed Cl(-) extrusion function of E50_Q93del and M415V mutants, with mildly impaired function of A191V and S323P mutants. Cell surface expression levels of these KCC2 mutants were similar to wildtype KCC2. Heterologous expression of two KCC2 mutants, mimicking the patient status, produced a significantly greater intracellular Cl(-) level than with wildtype KCC2, but less than without KCC2. These data clearly demonstrated that partially disrupted neuronal Cl(-) extrusion, mediated by two types of differentially impaired KCC2 mutant in an individual, causes EIMFS. More... »

PAGES

30072

Journal

TITLE

Scientific Reports

ISSUE

1

VOLUME

6

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/srep30072

DOI

http://dx.doi.org/10.1038/srep30072

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024076456

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27436767


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361 schema:name Department of Pediatrics, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan
362 rdf:type schema:Organization
363 grid-institutes:grid.419280.6 schema:alternateName Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan
364 schema:name Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan
365 rdf:type schema:Organization
366 grid-institutes:grid.505613.4 schema:alternateName Department of Neurophysiology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu 431-3192, Japan
367 schema:name Department of Neurophysiology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu 431-3192, Japan
368 rdf:type schema:Organization
 




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