Article
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
The Journal of physiology - 1 Dec 2005
Rhodes Thomas H, Vanoye Carlos G, Ohmori Iori, Ogiwara Ikuo, Yamakawa Kazuhiro, George Alfred L
Abstract excerpt
Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1.1), are associated with genetic forms of epilepsy, including generalized epilepsy with febrile seizures plus (GEFS+ type 2), severe myoclonic epilepsy of infancy (SMEI) and related conditions. Several missense SCN1A mutations have been identified in probands affected by the syndrome of intractable childhood...
Topics
- Alleles
- Child
- Epilepsies, Myoclonic
- Epilepsy
- Genotype
- Humans
- Ion Channel Gating
- Membrane Potentials
- Mutation
- NAV1.1 Voltage-Gated Sodium Channel
- Nerve Tissue Proteins