Article
NaV1.1 channels and epilepsy.
The Journal of physiology - 1 Jun 2010
Catterall William A, Kalume Franck, Oakley John C
Abstract excerpt
Voltage-gated sodium channels initiate action potentials in brain neurons, and sodium channel blockers are used in therapy of epilepsy. Mutations in sodium channels are responsible for genetic epilepsy syndromes with a wide range of severity, and the NaV1.1 channel encoded by the SCN1A gene is the most frequent target of mutations. Complete loss-of-function mutations in NaV1.1 cause severe myoclonic epilepsy of...
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