Scn1a - sodium channel, voltage-gated, type I, alpha

Enables voltage-gated sodium channel activity. Involved in detection of mechanical stimulus involved in sensory perception of pain and sodium ion transport. Acts upstream of or within several processes, including adult walking behavior; neuronal action potential; and neuronal action potential propagation. Located in several cellular components, including T-tubule; Z disc; and main axon. Part of sodium channel complex. Is expressed in brain; heart; sciatic nerve; sympathetic ganglion; and telencephalon. Used to study Dravet syndrome; autism spectrum disorder; and generalized epilepsy with febrile seizures plus. Human ortholog(s) of this gene implicated in Dravet syndrome; developmental and epileptic encephalopathy; familial hemiplegic migraine 3; generalized epilepsy with febrile seizures plus; and generalized epilepsy with febrile seizures plus 2. Orthologous to human SCN1A (sodium voltage-gated channel alpha subunit 1). [provided by Alliance of Genome Resources, Apr 2022]