SCN2A


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SCN2A

A gene on chromosome 2q24.3 that encodes a large alpha subunit of a transmembrane glycoprotein complex, which forms a voltage-gated sodium channel. The SCN2A protein product is expressed in muscle and brain.

Molecular pathology
SCN2A mutations are linked to various seizure disorders.
References in periodicals archive ?
By decoding her genetic make-up and analysing the genes of her parents they have found she suffers from a genetic mutation of the SCN2A gene.
For instance, the previously mentioned study of 928 autism patients also highlighted two autism probands carrying nonsense de novo mutations on the SCN2A gene, which encodes a sodium channel alpha subunit; the gene previously has been shown to have strong associations with seizure disorders.
A gain-of-function mutation in the sodium channel gene SCN2A results in seizures and behavioral abnormalities.