DISEASES

Disease-gene associations mined from literature

Literature associating SCN1A and juvenile myoclonic epilepsy

SCN1A [ENSP00000303540]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM