Article
Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities.
The Journal of biological chemistry - 26 Mar 2010
Martin Melinda S, Dutt Karoni, Papale Ligia A, Dubé Céline M, Dutton Stacey B, de Haan Georgius, Shankar Anupama, Tufik Sergio, Meisler Miriam H, Baram Tallie Z, Goldin Alan L, Escayg Andrew
Abstract excerpt
Voltage-gated sodium channels are required for the initiation and propagation of action potentials. Mutations in the neuronal voltage-gated sodium channel SCN1A are associated with a growing number of disorders including generalized epilepsy with febrile seizures plus (GEFS+),(7) severe myoclonic epilepsy of infancy, and familial hemiplegic migraine. To gain insight into the effect of SCN1A mutations on neuronal...
Topics
- Animals
- Female
- Gene Expression Regulation
- Homozygote
- Interneurons
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Transgenic
- Mutation