GABRA1

Species Homo sapiens
Epilepsy-Associated Disorder(s) childhood absence epilepsy, febrile seizures
Description gamma-aminobutyric acid (GABA) A receptor, alpha 1
Chromosome 5
Locus 5q34-q35
Mouse Homolog Gabra1
Worm Homolog unc-49
Protein Alignment Homo sapiens:

Mus musculus:

Caenorhabditis elegans:
Reference(s) Bradley CA, Taghibiglou C, Collingridge GL, Wang YT. Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. J Biol Chem. 2008 Aug 8;283(32):22043-50. Epub 2008 Jun 5.

Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002 Jun;31(2):184-9. Epub 2002 May 06.

Gallagher MJ, Shen W, Song L, Macdonald RL. Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha 1 subunit. J Biol Chem. 2005 Aug 25; [Epub ahead of print].

Kang J, Macdonald RL. The GABAA Receptor {gamma}2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of {alpha}1{beta}2{gamma}2S Receptors in the Endoplasmic Reticulum. J Neurosci. 2004 Oct 1;24(40):8672-8677.

Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J. Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. Eur J Neurosci. 2005 Jul;22(1):10-20.

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].

Ma S, Blair MA, Abou-Khalil B, Lagrange AH, Gurnett CA, Hedera P. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. Epilepsy Res. 2006 Jul 11; [Epub ahead of print].

Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A. A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol. 2006 May 22;59(6):983-987 [Epub ahead of print].

Meguro R, Lu J, Gavrilovici C, Poulter MO. Static, transient and permanent organization of GABA receptor expression in calbindin-positive interneurons in response to amygdala kindled seizures. J Neurochem. 2004 Oct;91(1):144-54.

Robinson R, Taske N, Sander T, Heils A, Whitehouse W, Goutieres F, Aicardi J, Lehesjoki AE, Siren A, Laue Friis M, Kjeldsen MJ, Panayiotopoulos C, Kennedy C, Ferrie C, Rees M, Gardiner RM. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. Epilepsy Res. 2002 Feb;48(3):169-79.

Sander T, Hildmann T, Janz D, Wienker TF, Bianchi A, Bauer G, Sailer U, Scaramelli A, Neitzel H, Schmitz B, Bailey ME, Beck-Mannagetta G, Johnson KJ, Darlison MG. Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma 2 subunit gene cluster on chromosome 5. Epilepsy Res. 1996 Apr;23(3):235-44.

Xiao X, McCown TJ, Li J, Breese GR, Morrow AL, Samulski RJ. Adeno-associated virus (AAV) vector antisense gene transfer in vivo decreases GABA(A) alpha1 containing receptors and increases inferior collicular seizure sensitivity. Brain Res. 1997 May 9;756(1-2):76-83.

Zhang G, Raol YH, Hsu FC, Coulter DA, Brooks-Kayal AR. Effects of status epilepticus on hippocampal GABAA receptors are age-dependent. Neuroscience. 2004;125(2):299-303.

[Entrez Cross-Database Search] [Entrez Gene] [Genatlas] [Human Gene Mutation Database] [Pfam] [Swiss-Prot] [UniProt] [Biogrid] [GeneCards] [Allen Brain Atlas ]