Species | Homo sapiens |
Alternate Name(s) | MGC45284 |
Epilepsy-Associated Disorder(s) | idiopathic generalized epilepsy |
Description | gamma-aminobutyric acid (GABA) A receptor, delta |
Chromosome | 1 |
Locus | 1p |
Reference(s) |
Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet. 2004 Jul 1;13(13):1315-9. Epub 2004 Apr 28.
Ma S, Abou-Khalil B, Blair MA, Sutcliffe JS, Haines JL, Hedera P. Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures. Neurosci Lett. 2005 Oct 24; [Epub ahead of print]. |