GABRG2

Species Homo sapiens
Alternate Name(s) CAE2, ECA2, GEFSP3
Epilepsy-Associated Disorder(s) childhood absence epilepsy, febrile seizures
Description gamma-aminobutyric acid (GABA) A receptor, gamma 2
Chromosome 5
Locus 5q31.1-q33.1
Reference(s) Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet. 2001 May;28(1):46-8.

Baulac S, Gourfinkel-An I, Couarch P, Depienne C, Kaminska A, Dulac O, Baulac M, LeGuern E, Nabbout R. A novel locus for generalized epilepsy with febrile seizures plus in French families. Arch Neurol. 2008 Jul;65(7):943-51.Click here to read

Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Epilepsia. 2004 Feb;45(2):149-58.

Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet. 2002 Feb;70(2):530-6. Epub 2001 Dec 17.

Kananura C, Haug K, Sander T, Runge U, Gu W, Hallmann K, Rebstock J, Heils A, Steinlein OK. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol. 2002 Jul;59(7):1137-41.

Kang JQ, Shen W, Macdonald RL. The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. J Neurosci. 2009 Mar 4;29(9):2845-56.

Kinirons P, Cavalleri GL, Shahwan A, Wood NW, Goldstein DB, Sisodiya SM, Delanty N, Doherty CP. Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs. Epilepsy Res. 2006 Jun 23; [Epub ahead of print].

Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL Jr. Molecular basis of an inherited epilepsy. Neuron. 2002 Jun 13;34(6):877-84.

Lu J, Chen Y, Zhang Y, Pan H, Wu H, Xu K, Liu X, Jiang Y, Bao X, Ding K, Shen Y, Wu X. Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy. Neurosci Lett. 2002 Oct 31;332(2):75-8.

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].

Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, Elia M, Ferrari A, Fontana E, Gaggero R, Giannotta M, Giordano L, Granata T, La Selva L, Luisa Lispi M, Santucci M, Vanadia F, Veggiotti P, Vigliano P, Viri M, Dagna Bricarelli F, Bianchi A, Zara F. No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. Epilepsy Res. 2003 Mar;53(3):196-200.

Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O. Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. Epilepsy Res. 2003 Oct;56(2-3):127-33.

Nakayama J, Hamano K, Noguchi E, Horiuchi Y, Iwasaki N, Ohta M, Nakahara S, Naoi T, Matsui A, Arinami T. Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients. Neurosci Lett. 2003 Jun 5;343(2):117-20.

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.

Spampanato J, Aradi I, Soltesz I, Goldin AL. Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus. J Neurophysiol. 2004 May;91(5):2040-50. Epub 2003 Dec 31.

Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001 May;28(1):49-52.

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