Role of the sodium channelSCN9Ain genetic epilepsy with febrile seizures plus and Dravet syndrome

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Abstract

Mutations of theSCN1Asubunit 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 withoutSCN1Amutation inherited have predictedSCN9Asusceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rareSCN9Agenetic variants. None of the multiplex febrile seizure or GEFS+ families could be explained by highly penetrantSCN9Amutations.

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