基因名：
Efhc1
产品别名：
1700029F22Rik； mRib72-1； myoclonin1； Efhc1； EF-hand domain (C-terminal) containing 1； EF-hand domain (C-terminal) containing 1； EF-hand domain-containing protein 1； myoclonin-1； EFHC1蛋白；
背景信息：
Defects in EFHC1 are the cause of juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]. EJM1 is a subtype of idiopathic generalized epilepsy (IGE). Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
Genetic variations in EFHC1 are the cause of susceptibility to juvenile absence epilepsy type 1 (JAE1) . JAE is a subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.
