GABAA Rα1 Polyclonal Antibody

disease:Defects in GABRA1 are a cause of juvenile myoclonic epilepsy (EJM) [MIM:606904]. EJM is a subtype of idiopathic generalized epilepsy. 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.,disease:Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4) [MIM:611136]. ECA4 is a subtype of idiopathic generalized epilepsy (IGE) characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Absence seizures may either remit or persist into adulthood.,function:GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.,online information:Forbidden fruit - Issue 56 of March 2005,similarity:Belongs to the ligand-gated ionic channel (TC 1.A.9) family.,subunit:Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.,