1. Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
- Author
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Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, Farrell K, Mackay M, Sadleir L, Bleasel A, Gill D, Webster R, Wirrell EC, Harbord M, Sisodiya S, Andermann E, Kivity S, Berkovic SF, Scheffer IE, and Dibbens LM
- Subjects
- Genetic Predisposition to Disease, Genotype, Humans, Pedigree, Epilepsies, Myoclonic genetics, Mutation genetics, NAV1.7 Voltage-Gated Sodium Channel genetics, Seizures, Febrile genetics, Sodium Channels genetics
- Abstract
Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS(+) ) in multiplex families and accounts for 70-80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS(+) families could be explained by highly penetrant SCN9A mutations., (Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.)
- Published
- 2013
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