GABRD

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].

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