Comment: Dravet syndrome--"old gene," novel mechanism

Neurology. 2014 Apr 8;82(14):1250. doi: 10.1212/WNL.0000000000000300. Epub 2014 Mar 12.

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.

Publication types

  • Comment

MeSH terms

  • Epilepsies, Myoclonic / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Munc18 Proteins / genetics*
  • Mutation / genetics*
  • Receptors, GABA-A / genetics*

Substances

  • GABRA1 protein, human
  • Munc18 Proteins
  • Receptors, GABA-A
  • STXBP1 protein, human