Article
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
The Journal of physiology - 1 Jun 2010
Meisler Miriam H, O'Brien Janelle E, Sharkey Lisa M
Abstract excerpt
The human sodium channel family includes seven neuronal channels that are essential for the initiation and propagation of action potentials in the CNS and PNS. In view of their critical role in neuronal firing and their strong sequence conservation during evolution, it is not surprising that mutations in the sodium channel genes are responsible for a growing spectrum of channelopathies. Nearly 700 mutations of...
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