Literature associating SCN1A and early infantile epileptic encephalopathy 9
Sodium channel, voltage-gated, type I, alpha subunit; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.1/SCN1A subfamily.
Synonyms: SCN1A, SCN1Ap, hSCN1A, P35498, NAC1 ...