SCN1B
MIM.600235 19q13.1
Voltage-gated sodium channels
Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues.
Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.
Pathology
SCN1B mutation in generalized epilepsy with febile seizures plus (GEFS+ syndrome) (MIM.604233).