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.

SUBMITTER: Xu M 

PROVIDER: S-EPMC10695662 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature