SCN2A

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four domains including 24 transmembrane segments and one or more regulatory beta subunits.

They are responsible for the generation and propagation of action potentials in neurons and muscle.

It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders.

[5] Mutations in this gene have been implicated in cases of autism,[6] infantile spasms, bitemporal glucose hypometabolism,[7] and bipolar disorder.

[8] Patient Organizations The SCN2A Foundation SCN2A Asia Pacific SCN2A Germany e. V. This article incorporates text from the United States National Library of Medicine, which is in the public domain.