Article
The SCN1A variant database: a novel research and diagnostic tool.
Human mutation - 1 Oct 2009
Claes Lieve R F, Deprez Liesbet, Suls Arvid, Baets Jonathan, Smets Katrien, Van Dyck Tine, Deconinck Tine, Jordanova Albena, De Jonghe Peter
Abstract excerpt
The neuronal voltage-gated sodium channel Na(v)1.1 encoded by the SCN1A gene plays an important role in the generation and propagation of action potentials in the central nervous system. Altered function of this channel due to mutations in SCN1A leads to hypersynchronous neuronal discharges resulting in seizures or migrainous attaques. A large number of distinct sequence variants in SCN1A are associated with...
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