EF hand domain C terminal containing 1, EF hand domain containing protein 1, EF-hand domain-containing protein 1, Efhc1, EFHC1_HUMAN, EJA1, EJM1, FLJ10466, FLJ37290, JAE, Myoclonin 1, Myoclonin-1.
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