Disease-gene associations mined from literature

Literature associating SCN7A and generalized epilepsy with febrile seizures plus

SCN7A [ENSP00000386796]

Sodium channel protein cardiac and skeletal muscle subunit alpha; 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.

Synonyms:  SCN7A,  SCN7Ap,  hSCN7A,  C9JII9,  C9JW43 ...

Linkouts:  STRING  Pharos  UniProt  OMIM