Article
The SCN1A gene variants and epileptic encephalopathies.
Journal of human genetics - 1 Sept 2013
Parihar Rashmi, Ganesh Subramaniam
Abstract excerpt
The voltage-gated sodium channels are fundamental units that evoke the action potential in excitable cells such as neurons. These channels are integral membrane proteins typically consisting of one α-subunit, which forms the larger central pore of the channel, and two smaller auxiliary β-subunits, which modulate the channel functions. Genetic alterations in the SCN1A gene coding for the α-subunit of the neuronal...
Topics
- Animals
- Disease Models, Animal
- Epilepsies, Myoclonic
- Genetic Association Studies
- Genetic Variation
- Humans
- Mice
- NAV1.1 Voltage-Gated Sodium Channel