期刊
EPILEPSIA
卷 54, 期 9, 页码 e122-e126出版社
WILEY
DOI: 10.1111/epi.12323
关键词
Clinical heterogeneity; Genetic modifier; Genetic susceptibility; Dravet syndrome; Febrile seizures; Genetic epilepsy with febrile seizures plus; SCN1A; SCN9A; Susceptibility gene
资金
- National Health and Medical Research Council of Australia
- Thyne-Reid Charitable Trusts
- MS McLeod Foundation
- SA Pathology
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.
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