GABRG2

Summary

Gene Symbol: GABRG2
Description: gamma-aminobutyric acid type A receptor gamma2 subunit
Alias: CAE2, ECA2, GEFSP3, gamma-aminobutyric acid receptor subunit gamma-2, GABA(A) receptor subunit gamma-2, GABA(A) receptor, gamma 2, gamma-aminobutyric acid (GABA) A receptor, gamma 2
Species: human
Products:     GABRG2

Top Publications

  1. Sarto I, Wabnegger L, Dögl E, Sieghart W. Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly. Neuropharmacology. 2002;43:482-91 pubmed
    ..Finally, it was demonstrated that the sequences investigated cause a selective assembly with certain subunits only and thus influence subunit arrangement within GABA(A) receptors. ..
  2. Lachance Touchette P, Brown P, Meloche C, Kinirons P, Lapointe L, Lacasse H, et al. Novel ?1 and ?2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. Eur J Neurosci. 2011;34:237-49 pubmed publisher
    ..mutations in the GABA(A) receptor by direct sequencing of the complete open reading frame of the GABRA1 and GABRG2 genes from a cohort of French Canadian families with idiopathic generalized epilepsy (IGE)...
  3. Warner T, Smith N, Kang J. The therapeutic effect of stiripentol in Gabrg2+/Q390X mice associated with epileptic encephalopathy. Epilepsy Res. 2019;154:8-12 pubmed publisher
    ..encephalopathy, Dravet syndrome (DS), which is caused by mutations mainly in SCN1A and in other genes such as GABRG2. We have recently generated a Gabrg2+/Q390X knockin mouse model associated with DS in humans...
  4. Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, et al. Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP. Transl Psychiatry. 2018;8:265 pubmed publisher
    ..The expression of GABA receptor genes, including GABRB2 and GABRG2, were consistently reduced in iPSC-derived neurons and brains from MAPT p.R406W carriers...
  5. Richard C, Tanenbaum A, Audit B, Arneodo A, Khalil A, Frankel W. SWDreader: a wavelet-based algorithm using spectral phase to characterize spike-wave morphological variation in genetic models of absence epilepsy. J Neurosci Methods. 2015;242:127-40 pubmed publisher
    ..Strain-specific density distributions were generated from SWDs of mice carrying the Gria4, Gabrg2, or Scn8a mutations to determine whether SWC morphological variants reliably mapped to the same regions of the ..
  6. Helbig I. Genetic Causes of Generalized Epilepsies. Semin Neurol. 2015;35:288-92 pubmed publisher
    ..seizures plus (GEFS+) and GGE through studies of large families, discovering causative mutations in SCN1A, SCN1B, GABRG2, and GABRA1. Subsequently, recurrent microdeletions at 15q13.3, 16p13.11, and 15q11...
  7. Bouthour W, Leroy F, Emmanuelli C, Carnaud M, Dahan M, Poncer J, et al. A human mutation in Gabrg2 associated with generalized epilepsy alters the membrane dynamics of GABAA receptors. Cereb Cortex. 2012;22:1542-53 pubmed publisher
    ..Alteration of the membrane diffusion of neurotransmitter receptors therefore represents a new mechanism in human epilepsy. ..
  8. Navarrete F, García Gutiérrez M, Laborda J, Manzanares J. Deletion of Dlk2 increases the vulnerability to anxiety-like behaviors and impairs the anxiolytic action of alprazolam. Psychoneuroendocrinology. 2017;85:134-141 pubmed publisher
    ..alprazolam and the relative gene expression levels of the GABA-A alpha 2 and gamma 2 receptor subunits (Gabra2 and Gabrg2) were also evaluated in the HIPP and AMY of WT and Dlk2-/- mice...
  9. Balasubramanian S, TEISSERE J, Raju D, Hall R. Hetero-oligomerization between GABAA and GABAB receptors regulates GABAB receptor trafficking. J Biol Chem. 2004;279:18840-50 pubmed
    ..These findings reveal that the GABA(B)R1/gamma2S interaction results in the regulation of multiple aspects of GABA(B) receptor trafficking, allowing for cross-talk between these two distinct classes of GABA receptor. ..

More Information

Publications157 found, 100 shown here

  1. Petryshen T, Middleton F, Tahl A, Rockwell G, Purcell S, Aldinger K, et al. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Mol Psychiatry. 2005;10:1074-88, 1057 pubmed
    ..to investigate a group of gamma-aminobutyric acid (GABA) A receptor subunit genes (GABRA1, GABRA6, GABRB2, GABRG2, and GABRP) within our linkage peak...
  2. Orenstein N, Goldberg Stern H, Straussberg R, Bazak L, Weisz Hubshman M, Kropach N, et al. A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder. Eur J Paediatr Neurol. 2018;22:516-524 pubmed publisher
    ..of de novo mutations in genes encoding different subunits of the GABAA receptor (GABRB1, GABRA1, GABRG2, GABRB3) with autosomal dominant epileptic disorders, we conclude that a de novo mutation in GABRA2 is likely to ..
  3. Huang X, Zhou C, Tian M, Kang J, Shen W, Verdier K, et al. Overexpressing wild-type ?2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice. Epilepsia. 2017;58:1451-1461 pubmed publisher
    ..Heterozygous Gabrg2+/Q390X knock-in (KI) mice had reduced cortical inhibition, spike wave discharges on ..
  4. Angione K, Eschbach K, Smith G, Joshi C, Demarest S. Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. Epilepsy Res. 2019;150:70-77 pubmed publisher
    ..had an epilepsy panel, two of which were positive (likely pathogenic variant in SCN1A, pathogenic variant in GABRG2)...
  5. Chou I, Lee C, Tsai C, Tsai Y, Wan L, Hsu Y, et al. Association of GABRG2 polymorphisms with idiopathic generalized epilepsy. Pediatr Neurol. 2007;36:40-4 pubmed
    ..These data suggest that the gamma2 subunit of the GABA receptor gene might be one of the susceptibility factors for idiopathic generalized epilepsies. ..
  6. Graus Nunes F, Souza Mello V. The renin-angiotensin system as a target to solve the riddle of endocrine pancreas homeostasis. Biomed Pharmacother. 2019;109:639-645 pubmed publisher
    ..in diet-induced obesity model, mainly related to the translational potential that angiotensin receptor blockers and ECA2/ANG (1-7)/MAS receptor axis modulation have when it comes to islet preservation and type 2 diabetes prevention and/..
  7. ENOCH M, Zhou Z, Kimura M, Mash D, Yuan Q, Goldman D. GABAergic gene expression in postmortem hippocampus from alcoholics and cocaine addicts; corresponding findings in alcohol-naïve P and NP rats. PLoS ONE. 2012;7:e29369 pubmed publisher
    ..b>GABRG2, encoding the gamma2 subunit required for postsynaptic clustering of GABAA receptors together with GPHN, encoding ..
  8. Kang J, Macdonald R. Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome. JAMA Neurol. 2016;73:1009-16 pubmed publisher
    ..epilepsies associated with mutations in the inhibitory ?-aminobutyric acid (GABAA) receptor ?2 subunit gene, GABRG2 (OMIM 137164), an established epilepsy gene...
  9. Feng W, Mei S, Han J, Zhu L, Yu Y, Gao B, et al. Lack of association between valproic acid response and polymorphisms of its metabolism, transport, and receptor genes in children with focal seizures. Neurol Sci. 2019;40:523-528 pubmed publisher
    ..48, P = 0.051), rs4921195 (GABRA6, T > C, OR = 2.71, 95% CI 0.99 to 7.42, P = 0.053), and rs424740 (GABRG2, A > T, OR = 0.39, 95% CI 0.15 to 1.01, P = 0...
  10. Loh E, Tang N, Lee D, Liu S, Stadlin A. Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:439-43 pubmed
    ..Single nucleotide polymorphisms (SNPs) of the GABAA receptor subunits GABRB2, GABRA6, GABRA1, and GABRG2 were examined in 178 male Han Chinese heroin-dependent and 170 male control subjects...
  11. Hirose S. Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy. Prog Brain Res. 2014;213:55-85 pubmed publisher
    ..of the genes encoding the α1, α6, β2, β3, γ2, or δ subunits (GABRA1, GABRA6, GABRB2, GABRB3, GABRG2, and GABRD, respectively) have been associated with human epilepsy, both with and without febrile seizures...
  12. Perucca P, Scheffer I, Harvey A, James P, Lunke S, Thorne N, et al. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy. Epilepsy Res. 2017;131:1-8 pubmed publisher
    ..5/40 (12.5%) patients had a pathogenic or likely pathogenic variant, detected in SCN1A, DEPDC5, PCDH19, GABRG2 or NPRL2...
  13. Appavu B, Vanatta L, Condie J, Kerrigan J, Jarrar R. Ketogenic diet treatment for pediatric super-refractory status epilepticus. Seizure. 2016;41:62-5 pubmed publisher
    ..Other etiologies included Lennox Gastaut Syndrome, non-ketotic hyperglycinemia, PCDH19 and GABRG2 genetic epilepsy, New Onset Refractory Status Epilepticus, and Febrile Infection-Related Epilepsy Syndrome...
  14. Bhat M, Guru S, Mir R, Waza A, Zuberi M, Sumi M, et al. Association of GABAA Receptor Gene with Epilepsy Syndromes. J Mol Neurosci. 2018;65:141-153 pubmed publisher
    GABA has always been an inviting target in the etiology and treatment of epilepsy. The GABRA1, GABRG2, and GABRD genes provide instructions for making α1, ϒ2, and δ subunits of GABAA receptor protein respectively...
  15. Wang J, Shen D, Xia G, Shen W, Macdonald R, Xu D, et al. Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity. Sci Rep. 2016;6:35294 pubmed publisher
    ..in GABAA receptor subunit genes are frequently associated with epilepsy, and nonsense mutations in GABRG2 are associated with several epilepsy syndromes including childhood absence epilepsy, generalized tonic clonic ..
  16. Jin P, Zhang J, Rowe Teeter C, Yang J, Stuve L, Fu G. Cloning and characterization of a GABAA receptor gamma2 subunit variant. J Biol Chem. 2004;279:1408-14 pubmed
    ..Together, our results indicate that Ser171 and Tyr172 in the gamma2 subunit constitute a critical motif. When this motif is disrupted by insertion of the alternative exon, access of the gamma2 subunit to the cell surface is prevented. ..
  17. Sarto Jackson I, Ramerstorfer J, Ernst M, Sieghart W. Identification of amino acid residues important for assembly of GABA receptor alpha1 and gamma2 subunits. J Neurochem. 2006;96:983-95 pubmed
    ..These data are consistent with the prediction that the mutated residue pairs are located close to each other. ..
  18. Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, et al. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014;46:1327-32 pubmed publisher
    ..Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy...
  19. Witsch J, Golkowski D, Hahn T, Petrou S, Spors H. Cortical alterations in a model for absence epilepsy and febrile seizures: in vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation. Neurobiol Dis. 2015;77:62-70 pubmed publisher
    ..In summary our findings support the hypothesis of a cortical pathology in this mouse model of human genetic absence epilepsy. Further study is needed to characterize underlying molecular mechanisms. ..
  20. Antonov S, Novosadova E, Arsenyeva E, Grefenstein M, Zykova A, Kobylyansky A, et al. Investigation of the effects of GABA receptor agonists in the differentiation of human induced pluripotent stem cells into dopaminergic neurons. Dokl Biol Sci. 2016;470:244-246 pubmed
    ..Thus, the presence of active GABA-A receptors, associated with phenotype determination via Ca2+-signalling was demonstrated in differentiating human DA neurons. ..
  21. Stojakovic A, Walczak M, Cieślak P, Trenk A, Sköld J, Zajdel J, et al. Several behavioral traits relevant for alcoholism are controlled by ɣ2 subunit containing GABAA receptors on dopamine neurons in mice. Neuropsychopharmacology. 2018;43:1548-1556 pubmed publisher
    ..Genetic variation in GABAA receptor subunits, including the ɣ2 subunit (Gabrg2), affects the risk for developing alcoholism...
  22. Jiang S, Yu J, Wang J, Tan Z, Xue H, Feng G, et al. Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2. DNA Seq. 2000;11:373-82 pubmed
    ..sequenced a BAC clone, dj082c10 (195,909-bp in size), encompassing human gamma(2) subunit of GABAA receptor (GABRG2). It is, we believe, the first genomic sequence of the GABA receptor gamma subunit family...
  23. Zai C, Zai G, Tiwari A, Manchia M, De Luca V, Shaikh S, et al. Association study of GABRG2 polymorphisms with suicidal behaviour in schizophrenia patients with alcohol use disorder. Neuropsychobiology. 2014;69:154-8 pubmed publisher
    ..Several genes coding for GABAA subunits, including the GABRG2 gene that encodes the γ2 subunit, are clustered at 5q31-q35, a chromosomal region that is associated with ..
  24. Pereira C, Moreirinha C, Teles L, Rocha R, Calado R, Romalde J, et al. Application of phage therapy during bivalve depuration improves Escherichia coli decontamination. Food Microbiol. 2017;61:102-112 pubmed publisher
    The present study investigated the potential application of the bacteriophage (or phage) phT4A, ECA2 and the phage cocktail phT4A/ECA2 to decrease the concentration of Escherichia coli during the depuration of natural and artificially ..
  25. Chiara D, Jayakar S, Zhou X, Zhang X, Savechenkov P, Bruzik K, et al. Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human ?1?3?2 ?-aminobutyric acid type A (GABAA) receptor. J Biol Chem. 2013;288:19343-57 pubmed publisher
    ..We hypothesize that binding at any of these homologous intersubunit sites is sufficient for anesthetic action and that this explains to some degree the puzzling structural heterogeneity of anesthetics. ..
  26. Gitaí L, de Almeida D, Born J, Gameleira F, De Andrade T, Machado L, et al. Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population. Neurol India. 2012;60:585-8 pubmed publisher
    ..This case/control study was designed to investigate whether the rs211037 of the GABRG2 gene is a risk factor for JME in the Brazilian population...
  27. Chang Y, Sun H, Fann C, Chang C, Liao Z, Huang J, et al. Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han. Mol Psychiatry. 2002;7:828-9 pubmed
  28. Moss S, Doherty C, Huganir R. Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor. J Biol Chem. 1992;267:14470-6 pubmed
    ..abstract truncated at 400 words) ..
  29. Shen D, Hernandez C, Shen W, Hu N, Poduri A, Shiedley B, et al. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. 2017;140:49-67 pubmed publisher
    ..phenotypes, and we identified five novel (A106T, I107T, P282S, R323W and F343L) and one known (R323Q) de novo GABRG2 pathogenic variants (mutations) in eight patients...
  30. Hargus N, Thayer S. Human immunodeficiency virus-1 Tat protein increases the number of inhibitory synapses between hippocampal neurons in culture. J Neurosci. 2013;33:17908-20 pubmed publisher
  31. Ishii A, Kanaumi T, Sohda M, Misumi Y, Zhang B, Kakinuma N, et al. Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy. Epilepsy Res. 2014;108:420-32 pubmed publisher
    Mutations in GABRG2, which encodes the ?2 subunit of GABAA receptors, can cause both genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome...
  32. Xia G, P Pourali S, Warner T, Zhang C, L Macdonald R, Kang J. Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy. Epilepsy Res. 2016;123:50-4 pubmed publisher
    ..b>GABRG2(Q390X) is a mutation associated with the epileptic encephalopathy Dravet syndrome (DS) and with genetic epilepsy ..
  33. Le S, Le P, Le T, Kieu Huynh T, Hang Do T. A mutation in GABRB3 associated with Dravet syndrome. Am J Med Genet A. 2017;173:2126-2131 pubmed publisher
    ..simplex patients have variants in one of several other genes, including but not limited to GABRA1, SCN2A, STXBP1, GABRG2, and SCN1B...
  34. Ohmori I, Ouchida M, Miki T, Mimaki N, Kiyonaka S, Nishiki T, et al. A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. Neurobiol Dis. 2008;32:349-54 pubmed publisher
    ..All coding exons of SCN1B, GABRG2, and CACNB4 genes were screened for mutations in 38 SCN1A-mutation-positive SMEI probands...
  35. Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, et al. No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. Epilepsy Res. 2003;53:196-200 pubmed
    ..Moreover, a mutation in the gene encoding the gamma2 subunit of the GABA(A) receptor-GABRG2-has been described in a GEFS+ family with a member affected by SMEI...
  36. Nymann Andersen J, Wang H, Olsen R. Biochemical identification of the binding domain in the GABA(A) receptor-associated protein (GABARAP) mediating dimer formation. Neuropharmacology. 2002;43:476-81 pubmed
    ..The identification of binding domains in GABARAP allows for the study of GABARAP functions, including GABA(A) receptor dynamics. ..
  37. Iqbal M, Wasim M, Rashid U, Zeeshan N, Ali R, Nayyab S, et al. Mutational screening of GABRG2 gene in Pakistani population of Punjab with generalized tonic clonic seizures and children with childhood absence epilepsy. J Chin Med Assoc. 2018;81:665-669 pubmed publisher
    ..Mutation analysis of the coding exons (exon 3, 5 and 9) was performed by sequencing GABRG2 to identify any complex biological entities among two different types of epilepsies...
  38. Martinez Torres A, Miledi R. Expression of functional receptors by the human gamma-aminobutyric acid A gamma 2 subunit. Proc Natl Acad Sci U S A. 2004;101:3220-3 pubmed
  39. Polizzi A, Incorpora G, Pavone P, Ruggieri M, Annesi G, Gambardella A, et al. Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area. Childs Nerv Syst. 2012;28:141-5 pubmed publisher
    Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus (GEFS(+)) and their affected and some unaffected family members, coming from a restricted geographic ..
  40. Ponnala S, Chaudhari J, Jaleel M, Bhiladvala D, Kaipa P, Das U, et al. Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption. Genet Test Mol Biomarkers. 2012;16:550-7 pubmed publisher
    To assess the role of MDR1 and gamma-aminobutyric acid receptor-gamma 2 sub unit (GABRG2) gene polymorphism in seizure susceptibility in generalized seizure (GS) and febrile seizure (FS) patients and to evaluate MDR1 C3435T gene ..
  41. Bergmann R, Kongsbak K, Sørensen P, Sander T, Balle T. A unified model of the GABA(A) receptor comprising agonist and benzodiazepine binding sites. PLoS ONE. 2013;8:e52323 pubmed publisher
    ..We present a binding mode of DZP in which the pending phenyl moiety of DZP is buried in the binding pocket and thus shielded from solvent exposure. Our full length GABA(A) receptor is made available as Model S1. ..
  42. Wang Y, Wang J, Zhou Y, Wei Z, Xiao Y, Zhou K, et al. Contribution of Common Variants in GABRG2, RELN and NRG3 and Interaction Networks to the Risk of Hirschsprung Disease. Cell Physiol Biochem. 2016;40:509-526 pubmed
    ..Genome-wide studies implied GABRG2, RELN and NRG3 might be involved in HSCR etiology...
  43. Warner T, Liu Z, Macdonald R, Kang J. Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice. Epilepsy Res. 2017;134:1-8 pubmed publisher
    ..febrile seizures (FS) plus (GEFS+) and Dravet syndrome have been associated with mutations especially in SCN1A and GABRG2 genes...
  44. Blanc C, Coluccia F, L Haridon F, Torres M, Ortiz Berrocal M, Stahl E, et al. The cuticle mutant eca2 modifies the plant defense responses to biotrophic and necrotrophic pathogens and herbivory insects. Mol Plant Microbe Interact. 2017;: pubmed publisher
    ..Here we further explored the interaction of eca mutants with pest and pathogens. Of all eca mutants, eca2 was more resistant to a fungal (Botrytis cinerea) and a bacterial (Pseudomonas syringae) pathogen, as well as to a ..
  45. Kananura C, Haug K, Sander T, Runge U, Gu W, Hallmann K, et al. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol. 2002;59:1137-41 pubmed
    Missense mutations in the GABRG2 gene, which encodes the gamma 2 subunit of central nervous gamma-aminobutyric acid (GABA)(A) receptors, have recently been described in 2 families with idiopathic epilepsy...
  46. Kinirons P, Cavalleri G, Shahwan A, Wood N, Goldstein D, Sisodiya S, et al. Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs. Epilepsy Res. 2006;70:229-38 pubmed
    Mutations in the gamma2 subunit gene of the GABA(A) receptor, GABRG2, have been shown to cause generalised epilepsy syndromes in rare familial cases...
  47. Baulac S, Baulac M. Advances on the genetics of mendelian idiopathic epilepsies. Neurol Clin. 2009;27:1041-1061 pubmed publisher
    ..autosomal dominant transmission have revealed 11 genes (KCNQ2, KCNQ3, CHRNA4, CHRNA2, CHRNB2, SCN1B, SCN1A, SCN2A, GABRG2, GABRA1, and LGI1) and numerous loci for febrile seizures and epilepsies...
  48. Johnston A, Kang J, Shen W, Pickrell W, Cushion T, Davies J, et al. A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. Neurobiol Dis. 2014;64:131-141 pubmed publisher
    ..of GEFS+ and screened for variations in the ?2 subunit of the ?-aminobutyric acid (GABA) type A receptor gene (GABRG2). We detected a novel GABRG2(p...
  49. Reinthaler E, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, et al. Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. Ann Neurol. 2015;77:972-86 pubmed publisher
    ..Identified GABRG2 variants were functionally assessed for protein stability, trafficking, postsynaptic clustering, and receptor ..
  50. Jin P, Walther D, Zhang J, Rowe Teeter C, Fu G. Serine 171, a conserved residue in the gamma-aminobutyric acid type A (GABAA) receptor gamma2 subunit, mediates subunit interaction and cell surface localization. J Biol Chem. 2004;279:14179-83 pubmed
    ..Mutation of serine 171 in the gamma2 subunit could therefore result in alteration of the structure of the subunit interaction site, preventing correct subunit assembly. ..
  51. Bekdash R, Harrison N. Downregulation of Gabra4 expression during alcohol withdrawal is mediated by specific microRNAs in cultured mouse cortical neurons. Brain Behav. 2015;5:e00355 pubmed publisher
    ..Eleven hours after removal of alcohol, Gabra4 was downregulated, with a modest increase in the expression of Gabrg2, but no change in the expression of Gabra1, Gabrd, or Gabrb2...
  52. Trudell J, Yue M, Bertaccini E, Jenkins A, Harrison N. Molecular modeling and mutagenesis reveals a tetradentate binding site for Zn2+ in GABA(A) alphabeta receptors and provides a structural basis for the modulating effect of the gamma subunit. J Chem Inf Model. 2008;48:344-9 pubmed publisher
    ..Sensitivity to Zn2+ was restored in the double mutant receptor, alpha1beta2gamma2 (I282H; K285E), in which the competition with lysine was removed and a more favorable Zn2+ binding site was formed. ..
  53. Kumari R, Lakhan R, Kalita J, Misra U, Mittal B. Association of alpha subunit of GABAA receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population. Seizure. 2010;19:237-41 pubmed publisher
    ..out the possible role of single nucleotide polymorphisms (SNPs) present in GABRA1 IVS11+15 A>G (rs2279020) and GABRG2 588C>T (rs211037) genes in seizure susceptibility and pharmaco-resistance in northern Indian patients with ..
  54. von Deimling M, Häsler R, Steinbach V, Holterhus P, von Spiczak S, Stephani U, et al. Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. Epilepsy Res. 2017;132:84-90 pubmed publisher
    ..Previously known genes including GABRA1, GABRB3, GABRG2, and RCN2 showed evidence for up- or down-regulation in individual experiments, but were not reliable across ..
  55. Tian M, Mei D, Freri E, Hernandez C, Granata T, Shen W, et al. Impaired surface ??? GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation. Neurobiol Dis. 2013;50:135-41 pubmed publisher
    ..underlying generalized epilepsy and febrile seizures plus (GEFS+) in a family with a novel ?2 subunit gene (GABRG2) frameshift mutation. Four affected and one unaffected individuals carried a c...
  56. Warner T, Shen W, Huang X, Liu Z, Macdonald R, Kang J. Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy. Hum Mol Genet. 2016;25:3192-3207 pubmed publisher
    ..b>GABRG2 is an established epilepsy gene, and mutations in it produce epilepsy syndromes with varying severities...
  57. Lin S, Chen C, Ball D, Liu H, Loh E. Gender-specific contribution of the GABA(A) subunit genes on 5q33 in methamphetamine use disorder. Pharmacogenomics J. 2003;3:349-55 pubmed
    ..Our study provides preliminary evidence that the GABA(A) subunit genes on 5q33 may preferentially contribute to methamphetamine use disorder in females. ..
  58. Foley P, Loh E, Innes D, Williams S, Tannenberg A, Harper C, et al. Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians. Ann N Y Acad Sci. 2004;1025:39-46 pubmed
    ..047), GABAA-beta2 1412C/C (P = .01), or EAAT2 603G/A (P = .022) genotypes. Combined DRD2TaqI A or B with GABAA-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism. ..
  59. Iwata H, Yamamuro Y. Subregional Expression of Hippocampal Glutamatergic and GABAergic Genes in F344 Rats with Social Isolation after Weaning. Comp Med. 2016;66:4-9 pubmed
    ..decrease the expression of GABAA receptor subunit genes, and Gabra1, Gabra2, Gabra4, Gabra5, Gabrb2, Gabrg1, and Gabrg2 were all significantly decreased in expression compared with the levels in the group-housed rats...
  60. Craddock N, Jones L, Jones I, Kirov G, Green E, Grozeva D, et al. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. Mol Psychiatry. 2010;15:146-53 pubmed publisher
    ..Our method of phenotype refinement may be useful in studies of other complex psychiatric and non-psychiatric disorders. ..
  61. Anzini M, Valenti S, Braile C, Cappelli A, Vomero S, Alcaro S, et al. New insight into the central benzodiazepine receptor-ligand interactions: design, synthesis, biological evaluation, and molecular modeling of 3-substituted 6-phenyl-4H-imidazo[1,5-a][1,4]benzodiazepines and related compounds. J Med Chem. 2011;54:5694-711 pubmed publisher
    ..Finally, some compounds were submitted to molecular docking calculations along with molecular dynamics simulations in the Cromer's GABA(A) homology model. ..
  62. Zou F, McWalter K, Schmidt L, Decker A, Picker J, Lincoln S, et al. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. J Neurogenet. 2017;31:30-36 pubmed publisher
    Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures...
  63. Feng H, Jounaidi Y, Haburcak M, Yang X, Forman S. Etomidate produces similar allosteric modulation in ?1?3? and ?1?3?2L GABA(A) receptors. Br J Pharmacol. 2014;171:789-98 pubmed publisher
    ..Reducing total mRNA unexpectedly increased ? subunit incorporation into receptors on oocyte plasma membranes. Our results favour homologous locations for ? and ?2L subunits in ?1?3?2/? GABA(A) receptors. ..
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    In the present study two new phages (phT4A and ECA2) were characterized and their efficacy was evaluated separately and in cocktail (phT4A/ECA2) to control Escherichia coli...
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    ..The interactions among GABA(A) receptors, GABARAP and tubulin suggest a mechanism for the targeting and clustering of GABA(A) receptors. ..
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    ..Such disturbances likely underlie the core alterations in socio-emotional behaviors in autism. ..
  67. Sijben A, Sithinamsuwan P, Radhakrishnan A, Badawy R, Dibbens L, Mazarib A, et al. Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?. Epilepsia. 2009;50:953-6 pubmed publisher
    ..Patients with GABRG2 mutations had a similar early onset in contrast to patients with SCN1B mutations where onset was later...
  68. Hong D, Kim C, Eom W, Choi K, Oh Y, Jung S, et al. Interactions of midazolam and propofol on ?1?2?2L and ?1?2?2S gamma aminobutyric acid type A receptors expressed in human embryonic kidney cells. Anesth Analg. 2011;112:1096-102 pubmed publisher
    ..The interaction between midazolam and propofol is affected by receptor subtype, and protein kinase phosphorylation influences their interaction on the ?(1)?(2)?(2)L receptor. ..
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    ..SWD-free mice harboring the R43Q mutation had no learning deficit. We conclude that SWDs reduce hippocampal HCN1 expression and function, and that the reduction associates with a spatial learning deficit. ..
  70. Mrabet H, Belhedi N, Bouchlaka S, El Gaaied A, Mrabet A. GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families. Neurol Sci. 2007;28:311-4 pubmed publisher
    The objective was to investigate whether the described mutations of the SCN1A, SCN1B and GABRG2 genes are associated to generalised epilepsy with febrile seizure plus (GEFS+) in two Tunisian families...
  71. Iwakiri M, Mizukami K, Ikonomovic M, Ishikawa M, Abrahamson E, DeKosky S, et al. An immunohistochemical study of GABA A receptor gamma subunits in Alzheimer's disease hippocampus: relationship to neurofibrillary tangle progression. Neuropathology. 2009;29:263-9 pubmed publisher
    ..These results suggest that upregulating or preserving GABA(A)gamma1/3 and gamma2 receptors may protect neurons against neurofibrillary pathology in AD. ..
  72. Khan A, Ruwali M, Choudhuri G, Mathur N, Husain Q, Parmar D. Polymorphism in cytochrome P450 2E1 and interaction with other genetic risk factors and susceptibility to alcoholic liver cirrhosis. Mutat Res. 2009;664:55-63 pubmed publisher
    ..such as glutathione-S-transferases M1 (GSTM1) and alcohol intake, gamma-aminobutyric acid receptor gamma2 (GABRG2) was studied with the risk to alcoholic cirrhosis in a case-control study...
  73. Todd E, Gurba K, Botzolakis E, Stanic A, Macdonald R. GABAA receptor biogenesis is impaired by the ?2 subunit febrile seizure-associated mutation, GABRG2(R177G). Neurobiol Dis. 2014;69:215-24 pubmed publisher
    ..These findings support an emerging body of literature implicating defects in GABAA receptor biogenesis in the pathogenesis of genetic epilepsies (GEs) and FS. ..
  74. Kostrzewa M, Kohler A, Eppelt K, Hellam L, Fairweather N, Levy E, et al. Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33. Eur J Hum Genet. 1996;4:199-204 pubmed
    ..consisting of the four gamma-aminobutyric acidA (GABAA) receptor subunit genes GABRA1, GABRA6, GABRAB2, and GABRG2 was assigned to a yeast artificial chromosome (YAC) contig of 5q33...
  75. Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, et al. SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. J Hum Genet. 2008;53:769-74 pubmed publisher
    ..sodium channel subunit gene (SCN1A, SCN2A, SCN1B) and ligand-gated gamma aminobutyric acid receptors genes (GABRG2, GABRD). We investigated the roles of SCN1A, SCN1B, and GABRG2 mutations in the etiology of Chinese GEFS+ families...
  76. Hondebrink L, Meulenbelt J, van Kleef R, Van den Berg M, Westerink R. Modulation of human GABAA receptor function: a novel mode of action of drugs of abuse. Neurotoxicology. 2011;32:823-7 pubmed publisher
    ..Consequently, hGABA(A)-Rs should be considered as target for psychiatric pharmaceuticals and in developing treatment for drug intoxications. ..
  77. Baulac S, Huberfeld G, Gourfinkel An I, Mitropoulou G, Beranger A, Prud homme J, et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet. 2001;28:46-8 pubmed
    ..We now report a K289M mutation in the GABA(A) receptor gamma2-subunit gene (GABRG2) that segregates in a family with a phenotype closely related to GEFS+ (ref...
  78. Chou I, Peng C, Huang C, Tsai J, Tsai F, Tsai C. Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures. Pediatr Res. 2003;54:26-9 pubmed
    ..Missense mutations in the GABRG2 gene, which encodes the gamma2 subunit of central nervous GABAA receptors, have recently been described in one ..
  79. Sancar F, Czajkowski C. A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors. J Biol Chem. 2004;279:47034-9 pubmed
    ..A deficit in surface GABAR expression would reduce synaptic inhibition and result in neuronal hyperexcitability, which could explain why families possessing the gamma2R43Q subunit have epilepsy. ..
  80. Bousman C, Glatt S, Everall I, Tsuang M. Genetic association studies of methamphetamine use disorders: A systematic review and synthesis. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:1025-49 pubmed publisher
    ..nine (ARRB2, BDNF, CYP2D6, GLYT1, GSTM1, GSTP1, PDYN, PICK1, and SLC22A3) with METH dependence, two (AKT1 and GABRG2) with METH abuse/dependence, and four (DTNBP1, OPRM1, SNCA, and SOD2) with METH psychosis...
  81. Zai C, Tiwari A, King N, De Luca V, Mueller D, Shaikh S, et al. Association study of the gamma-aminobutyric acid type a receptor gamma2 subunit gene with schizophrenia. Schizophr Res. 2009;114:33-8 pubmed publisher
    Schizophrenia (SCZ) is a severe neuropsychiatric disorder with a strong genetic basis. We analyzed eight GABRG2 and one DRD5 tag single-nucleotide polymorphisms for association with SCZ in 109 small nuclear families and 229 independent ..
  82. Salam S, Rahman H, Karam R. GABRG2 gene polymorphisms in Egyptian children with simple febrile seizures. Indian J Pediatr. 2012;79:1514-6 pubmed publisher
    Mutations in the gamma-aminobutyric acid type A receptor (GABRG2) gene have been associated with generalized epilepsy, childhood absence epilepsy and febrile seizures...
  83. Chen T, Murrell M, Fowdar J, Roy B, Grealy R, Griffiths L. Investigation of the role of the GABRG2 gene variant in migraine. J Neurol Sci. 2012;318:112-4 pubmed publisher
    ..In this study, a GABRG2 gene (GABAA receptor gamma-2-subunit) SNP (rs211037) was genotyped on a migraine case-control population of 546 (..
  84. Kang J, Shen W, Macdonald R. Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype. Ann Neurol. 2013;74:547-59 pubmed publisher
    ..and the impact on channel biogenesis, function, and cellular homeostasis of truncated ?2 subunits produced by GABRG2 nonsense mutations associated with epilepsy of different severities and by a nonsense mutation in the last exon ..
  85. Chiu C, Reid C, Tan H, Davies P, Single F, Koukoulas I, et al. Developmental impact of a familial GABAA receptor epilepsy mutation. Ann Neurol. 2008;64:284-93 pubmed publisher
    ..These data suggest that identification of presymptomatic children may provide a window for therapeutic intervention before overt symptoms are observed, potentially altering the course of epileptogenesis. ..
  86. Pham X, Sun C, Chen X, van den Oord E, Neale M, Kendler K, et al. Association study between GABA receptor genes and anxiety spectrum disorders. Depress Anxiety. 2009;26:998-1003 pubmed publisher
    ..data from 26 single nucleotide polymorphisms (SNPs) from four GABA receptor genes: GABRA2, GABRA3, GABRA6, and GABRG2. Of the 26 SNPs genotyped in stage 1, we identified two markers in GABRA3 that met the threshold (P < or = ...
  87. Migita K, Yamada J, Nikaido Y, Shi X, Kaneko S, Hirose S, et al. Properties of a novel GABAA receptor ?2 subunit mutation associated with seizures. J Pharmacol Sci. 2013;121:84-7 pubmed
    ..These results suggest that the changes in the steepness of the concentration-response relationship for GABA in the N40S receptor may trigger epilepsy. ..
  88. Hondebrink L, Tan S, Hermans E, van Kleef R, Meulenbelt J, Westerink R. Additive inhibition of human ?1?2?2 GABAA receptors by mixtures of commonly used drugs of abuse. Neurotoxicology. 2013;35:23-9 pubmed publisher
    ..As this will increase the risk for drug-induced toxicity, treatment of drug-intoxicated patients with drugs that enhance GABA-ergic input should be further optimized. ..
  89. Pritchett D, Sontheimer H, Shivers B, Ymer S, Kettenmann H, Schofield P, et al. Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology. Nature. 1989;338:582-5 pubmed
    ..Importantly, coexpression of the gamma 2 subunit with alpha 1 and beta 1 subunits produces GABAA receptors displaying high-affinity binding for central benzodiazepine receptor ligands. ..
  90. Wallace R, Marini C, Petrou S, Harkin L, Bowser D, Panchal R, et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001;28:49-52 pubmed
    ..We found that the mutation in GABRG2 (encoding the gamma2-subunit) abolished in vitro sensitivity to diazepam, raising the possibility that endozepines ..