Open AccessMolecular Pathology of Genetic Epilepsies Associated with GABA A Receptor Subunit Mutations
Author(s) -
Macdonald Robert L.,
Kang JingQiong
Publication year - 2009
Publication title -
epilepsy currents
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.415
H-Index - 22
eISSN - 1535-7511
pISSN - 1535-7597
DOI - 10.1111/j.1535-7511.2008.01278.x
Subject(s) - juvenile myoclonic epilepsy , gamma aminobutyric acid receptor subunit alpha 1 , epilepsy , childhood absence epilepsy , idiopathic generalized epilepsy , protein subunit , receptor , generalized epilepsy , medicine , genetics , g alpha subunit , neuroscience , biology , gene
Mutations in ligand‐gated ion channel genes associated with idiopathic generalized epilepsies have been reported in excitatory acetylcholine receptor α4 and β2 subunit genes linked to autosomal dominant nocturnal frontal lobe epilepsy and in inhibitory GABA A receptor α1, β3, γ2, and δ subunit genes associated with childhood absence epilepsy, juvenile myoclonic epilepsy, pure febrile seizures, generalized epilepsy with febrile seizures plus, and generalized epilepsy with tonic–clonic seizures. Recent studies suggest that these mutations alter receptor function or biogenesis, including impaired receptor subunit messenger RNA stability, receptor subunit protein folding and stability, receptor assembly, and receptor trafficking.