Article
Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Epilepsia - 1 Sept 2010
Escayg Andrew, Goldin Alan L
Abstract excerpt
Mutations in a number of genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS, severe myoclonic epilepsy of infancy). Most of these mutations are in the SCN1A gene, and all are dominantly inherited. Most of the mutations that cause DS result in loss of function, whereas all...
Topics
- Animals
- Channelopathies
- Disease Models, Animal
- Epilepsies, Myoclonic
- Epilepsy, Generalized
- Humans
- Mice
- Mosaicism
- Mutation
- NAV1.1 Voltage-Gated Sodium Channel
- Nerve Tissue Proteins
- Rats