功能： disease:Defects in GABRD are the cause of susceptibility to generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers to a rare familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.,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.,similarity:Belongs to the ligand-gated ionic channel (TC 1.A.9) family.,subunit:Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.,
功能： disease:Defects in GABRD are the cause of susceptibility to generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers to a rare familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.,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.,similarity:Belongs to the ligand-gated ionic channel (TC 1.A.9) family.,subunit:Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.,
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