title: Comment: Dravet syndrome--"old gene," novel mechanism.
abstract: Dravet syndrome (DS, Online Mendelian Inheritance in Man#607208), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. Individuals with DS face a high risk of sudden unexpected death in epilepsy. In ≥ 75% of cases, DS is associated with mutations of the gene encoding the α1 subunit of the sodium channel, SCN1A. However, the genetic causes of DS without mutations in SCN1A remain largely unknown.
authors.affiliation: From the Department of Neurology, Baylor College of Medicine, Houston, TX.
authors.forename: Mingxuan
authors.initials: M
authors.lastname: Xu
mesh_terms: D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D051938:Munc18 Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics*
chemical_list: C546240:GABRA1 protein, human; D051938:Munc18 Proteins; D011963:Receptors, GABA-A; C497937:STXBP1 protein, human