The EFHC1 Polyclonal Antibody, Cy5 Conjugated from Bioss Inc. is a Rabbit Polyclonal antibody to EFHC1. This antibody recognizes Human, Mouse, and Rat antigen. The EFHC1 Polyclonal Antibody, Cy5 Conjugated has been validated for the following applications: Immunofluorescence, Immunohistochemistry, and Immunohistochemistry - fixed.
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