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Kivity, Sara

0009-0004-5763-0860

A5072063739 | I4210109312

Mayo Clinic

Schneider Children's Medical Center

Citations 1

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

Epilepsia | July 29, 2013 | Volume: 54 | Issue: 9 | Pages: No page available

10.1111/epi.12323 | PMID 23895530

SummaryMutations 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.