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Epilepsia. 2013 Sep;54(9):e122-6. doi: 10.1111/epi.12323. Epub 2013 Jul 29.

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Author information

1
Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.

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.

KEYWORDS:

Clinical heterogeneity; Dravet syndrome; Febrile seizures; Genetic epilepsy with febrile seizures plus; Genetic modifier; Genetic susceptibility; SCN1A; SCN9A; Susceptibility gene

PMID:
23895530
DOI:
10.1111/epi.12323
[Indexed for MEDLINE]
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