Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.
Epilepsia. 2013 Sep;54(9):e122-6. doi: 10.1111/epi.12323. Epub 2013 Jul 29.
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.
钠离子通道 SCN1A 亚基的突变是多种族遗传性热性惊厥附加症（GEFS(+)）和 Dravet 综合征（DS）的致病原因，占 DS 的 70-80%。无 SCN1A 突变的 DS 病例遗传预测 SCN9A 易感变异，这可能导致这些不明原因的 DS 病例的复杂遗传。与对照组相比，DS 病例显著富集了罕见的 SCN9A 遗传变异。高度外显的 SCN9A 突变无法解释多发性热性惊厥或 GEFS(+) 家族。
