Bioss Inc.'s EFHC1 Polyclonal Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, and Western Blot. The EFHC1 Polyclonal Antibody was generated using EFHC1 as the antigen and it reacts with Human, Mouse, and Rat.
Description
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