Comment: Dravet syndrome--"old gene," novel mechanism.
editorial · Level V
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- Record sourced from PubMed, PMID 24623837.
- Also identified by DOI 10.1212/WNL.0000000000000300 and PMC identifier 10695662.
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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.
Medical subject headings
- Epilepsies, Myoclonic
- Genetic Predisposition to Disease
- Munc18 Proteins
- Mutation
- Receptors, GABA-A