GABRA1

Summary

Gene Symbol: GABRA1
Description: gamma-aminobutyric acid type A receptor alpha1 subunit
Alias: ECA4, EIEE19, EJM, EJM5, gamma-aminobutyric acid receptor subunit alpha-1, GABA(A) receptor subunit alpha-1, GABA(A) receptor, alpha 1, gamma-aminobutyric acid (GABA) A receptor, alpha 1
Species: human

Top Publications

  1. ncbi Isolation and characterization of the promoter of the human GABAA receptor alpha 1 subunit gene
    I Kang
    Department of Pharmacology and Experimental Therapeutics, Tufts University School of Medicine, Boston, Massachusetts 02111
    J Neurochem 62:1643-6. 1994
  2. ncbi GABAA alpha-1 subunit gene not associated with depressive symptomatology in mood disorders
    A Serretti
    Department of Neuroscience, School of Medicine, University of Milano, Italy
    Psychiatr Genet 8:251-4. 1998
  3. pmc Mapping general anesthetic binding site(s) in human α1β3 γ-aminobutyric acid type A receptors with [³H]TDBzl-etomidate, a photoreactive etomidate analogue
    David C Chiara
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, United States
    Biochemistry 51:836-47. 2012
  4. ncbi Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly
    I Sarto
    Division of Biochemistry and Molecular Biology, Brain Research Institute, University of Vienna, Spitalgasse 4, Austria
    Neuropharmacology 43:482-91. 2002
  5. ncbi Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders
    Yasue Horiuchi
    Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
    Biol Psychiatry 55:40-5. 2004
  6. ncbi Dopamine receptor D2 and D4 genes, GABA(A) alpha-1 subunit genes and response to lithium prophylaxis in mood disorders
    A Serretti
    Istituto Scientifico Ospedale San Raffaele, Department of Neuropsychiatric Sciences, University of Milan School of Medicine, Italy
    Psychiatry Res 87:7-19. 1999
  7. ncbi Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5
    Kuo Chen Chou
    Tianjin Institute of Bioinformatics and Drug Discovery, Tianjin 300074, China
    Biochem Biophys Res Commun 316:636-42. 2004
  8. pmc Mutations in GABAA receptor subunits associated with genetic epilepsies
    Robert L Macdonald
    Department of Neurology, Vanderbilt University, 6140 Medical Research Building III, 465 21st Avenue, Nashville, TN 37232 8552, USA
    J Physiol 588:1861-9. 2010
  9. pmc Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism
    D Q Ma
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 77:377-88. 2005
  10. pmc Whole-genome association studies of alcoholism with loci linked to schizophrenia susceptibility
    Junghyun Namkung
    Bioinformatics Program, Seoul National University, Seoul 151 747, South Korea
    BMC Genet 6:S9. 2005

Research Grants

  1. Shelley J Russek; Fiscal Year: 2016
  2. Martin J Gallagher; Fiscal Year: 2014
  3. GABA-A Receptor Gene Transfer to Prevent Epileptogenesis
    SHELLEY RUSSEK; Fiscal Year: 2004
  4. Parent and Peer Influences on Alcohol Use Problems: A Genetically Informed Study
    KAITLIN ELIZABETH BOUNTRESS; Fiscal Year: 2013
  5. Vulnerability Factors and Drinking in Adulthood
    Michael Windle; Fiscal Year: 2009
  6. Dimensions and Polarity of Anesthetic Binding SItes
    James Trudell; Fiscal Year: 2004
  7. Properties of Specific Alcohol Binding Sites
    James Trudell; Fiscal Year: 2009
  8. TREATMENT FOR ALCHOLISM: A PRIMATE MODEL
    KELLY COSGROVE; Fiscal Year: 2002
  9. Lafora's Progressive Myoclonus Epilepsy
    Antonio Delgado Escueta; Fiscal Year: 2003
  10. PKA & PKC REGULATION OF NT2-N & RECOMBINANT GABARS
    Robert MacDonald; Fiscal Year: 2003

Detail Information

Publications165 found, 100 shown here

  1. ncbi Isolation and characterization of the promoter of the human GABAA receptor alpha 1 subunit gene
    I Kang
    Department of Pharmacology and Experimental Therapeutics, Tufts University School of Medicine, Boston, Massachusetts 02111
    J Neurochem 62:1643-6. 1994
    ..Transcriptional activity of this promoter construct was strongly repressed by chronic administration of lorazepam...
  2. ncbi GABAA alpha-1 subunit gene not associated with depressive symptomatology in mood disorders
    A Serretti
    Department of Neuroscience, School of Medicine, University of Milano, Italy
    Psychiatr Genet 8:251-4. 1998
    ..the possibility that the gene for the gamma-aminobutyric acid type A (GABAA) receptor alpha-1 subunit (GABRA1) might be associated with depressive symptomatology in a sample of mood disorder subjects...
  3. pmc Mapping general anesthetic binding site(s) in human α1β3 γ-aminobutyric acid type A receptors with [³H]TDBzl-etomidate, a photoreactive etomidate analogue
    David C Chiara
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, United States
    Biochemistry 51:836-47. 2012
    ..Etomidate-inhibitable photolabeling of β3Met-227 in βM1 by [³H]TDBzl-etomidate and [³H]azietomidate also provides evidence of a homologous etomidate binding site at the β3-β3 subunit interface in the α1β3 GABA(A)R...
  4. ncbi Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly
    I Sarto
    Division of Biochemistry and Molecular Biology, Brain Research Institute, University of Vienna, Spitalgasse 4, Austria
    Neuropharmacology 43:482-91. 2002
    ..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...
  5. ncbi Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders
    Yasue Horiuchi
    Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
    Biol Psychiatry 55:40-5. 2004
    ..The GABRA1 gene encodes one of the subunits of GABA-A receptor and is located on human chromosome 5q34-q35, which is a region ..
  6. ncbi Dopamine receptor D2 and D4 genes, GABA(A) alpha-1 subunit genes and response to lithium prophylaxis in mood disorders
    A Serretti
    Istituto Scientifico Ospedale San Raffaele, Department of Neuropsychiatric Sciences, University of Milan School of Medicine, Italy
    Psychiatry Res 87:7-19. 1999
    ..receptor D2 (DRD2), D4 exon 3 (DRD4), and gamma-aminobutyric acid type A (GABA(A)) receptor alpha-1 subunit (GABRA1) gene variants on the efficacy of lithium prophylaxis in mood disorders...
  7. ncbi Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5
    Kuo Chen Chou
    Tianjin Institute of Bioinformatics and Drug Discovery, Tianjin 300074, China
    Biochem Biophys Res Commun 316:636-42. 2004
    ..The present models might be also useful in understanding the basic mechanism of operation of the GABA-A receptors, stimulating novel strategies for developing more specific drugs and better treatments...
  8. pmc Mutations in GABAA receptor subunits associated with genetic epilepsies
    Robert L Macdonald
    Department of Neurology, Vanderbilt University, 6140 Medical Research Building III, 465 21st Avenue, Nashville, TN 37232 8552, USA
    J Physiol 588:1861-9. 2010
    Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile ..
  9. pmc Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism
    D Q Ma
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 77:377-88. 2005
    ..were screened in the following genes: GABRG1, GABRA2, GABRA4, and GABRB1 on chromosome 4p12; GABRB2, GABRA6, GABRA1, GABRG2, and GABRP on 5q34-q35.1; GABRR1 and GABRR2 on 6q15; and GABRA5, GABRB3, and GABRG3 on 15q12...
  10. pmc Whole-genome association studies of alcoholism with loci linked to schizophrenia susceptibility
    Junghyun Namkung
    Bioinformatics Program, Seoul National University, Seoul 151 747, South Korea
    BMC Genet 6:S9. 2005
    ..For the genetic study of complex diseases, association analysis has been recommended because of its higher power than that of the linkage analysis for detecting genes with modest effects on disease...
  11. doi Imprinting in the schizophrenia candidate gene GABRB2 encoding GABA(A) receptor β(2) subunit
    F W Pun
    Department of Biochemistry, Hong Kong University of Science and Technology, Clear Water Bay, Hong Kong, China
    Mol Psychiatry 16:557-68. 2011
    ..of allelic expression in heterozygotes of SNP rs2229944 (C/T) in GABRB2 or rs2290732 (G/A) in the neighboring GABRA1 was compatible with imprinting effects on gene expression...
  12. ncbi Genetics of bipolar disorder
    Tadafumi Kato
    Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, Wako, Saitama, Japan
    Drugs Today (Barc) 41:335-44. 2005
    ..Among recently reported candidate genes, BDNF, G72, AKT1, GRIN2A, XBP1, GRK3, HTR4, IMPA2 and GABRA1 may have some importance...
  13. doi Changes in neuronal activity and gene expression in guinea-pig auditory brainstem after unilateral partial hearing loss
    S Dong
    Physiology, School of Biomedical, Biomolecular and Chemical Sciences, M311, University of Western Australia, 35 Stirling Highway, Crawley, Western Australia 6009, WA, Australia
    Neuroscience 159:1164-74. 2009
    ..Expression of glutamate decarboxylase 1 (GAD1), GABA-A receptor subunit alpha-1 (GABRA1), and potassium channel subfamily K member 15 (KCNK15) was decreased ipsilaterally in the cochlear nucleus and ..
  14. doi Advances on the genetics of Mendelian idiopathic epilepsies
    Stephanie Baulac
    CRICM UPMC Paris6 UMR S975 Inserm U975 CNRS UMR 7225, F 75013, Bâtiment Pharmacie, Hôpital de Pitié Salpêtrière, 47 Boulevard de l Hopital, 75013 Paris, France
    Clin Lab Med 30:911-29. 2010
    ..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...
  15. doi Whole-genome scan identifies quantitative trait loci for chronic pastern dermatitis in German draft horses
    E Henrike Mittmann
    Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bunteweg 17p, 30559, Hannover, Germany
    Mamm Genome 21:95-103. 2010
    ..For the Rhenish German and Schleswig draft horses, additional QTL on ECA4 and 10 and for the South German draft horses an additional QTL on ECA7 were found...
  16. ncbi Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits
    P R Schofield
    Zentrum fur Molekulare Biologie, University of Heidelberg, FRG
    FEBS Lett 244:361-4. 1989
    ..The cloned human GABAA receptor subunits induce the formation of GABA-gated chloride channels when expressed in mammalian cells...
  17. ncbi GABA(A) receptor cell surface number and subunit stability are regulated by the ubiquitin-like protein Plic-1
    F K Bedford
    Medical Research Council Laboratory of Molecular Cell Biology and Department of Pharmacology, University College London, Gower Street, London WC1E 6BT, UK
    Nat Neurosci 4:908-16. 2001
    ..Our study identifies a previously unknown role for Plic-1, a modulation of GABA(A) receptor cell surface number, which suggests that Plic-1 facilitates accumulation of these receptors in dendritic membranes...
  18. ncbi Association analysis of chromosome 5 GABAA receptor cluster in Japanese schizophrenia patients
    Masashi Ikeda
    Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Aichi, Japan
    Biol Psychiatry 58:440-5. 2005
    ..A GABA(A) receptor gene cluster on 5q31-35 (beta2 [GABRB2], alpha6 [GABRA6], alpha1 [GABRA1], and gamma2 [GABRG2] subunit genes) is one of the most attractive candidate regions for schizophrenia ..
  19. ncbi No evidence for an association between variants at the gamma-amino-n-butyric acid type A receptor beta2 locus and schizophrenia
    Rami Abou Jamra
    Institute of Human Genetics, Department of Psychiatry, Life and Brain Center, University of Bonn, Bonn, Germany
    Psychiatr Genet 17:43-5. 2007
    ..abundant gamma-amino-n-butyric acid type A receptor subtype in mammalian brains and the corresponding genes, the GABRA1, GABRB2, and GABRG2 genes, are located in chromosomal region 5q34 that several genome wide scans have implicated ..
  20. doi On the molecular mechanism of water reorientation
    Damien Laage
    Chemistry Department, Ecole Normale Superieure, 24 rue Lhomond 75005 Paris, France
    J Phys Chem B 112:14230-42. 2008
    ..water reorientation based on molecular dynamics simulations and the analytic framework of the extended jump model (EJM)...
  21. pmc A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia
    Shashwath A Meda
    Olin Neuropsychiatry Research Center, Institute of Living, 200 Retreat Avenue, Hartford, CT 06106, USA
    Neuroimage 53:1007-15. 2010
    ....
  22. doi Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder
    Elaine K Green
    Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 153:1347-9. 2010
    ..Here we provide suggestive evidence implicating a sixth member of the gene family, GABRR1 (gene-wide P = 0.0058; experiment-wide corrected significance P = 0.052)...
  23. pmc A state-dependent salt-bridge interaction exists across the β/α intersubunit interface of the GABAA receptor
    Kurt T Laha
    Department of Biological Sciences, Marquette University, Milwaukee, WI 53201 1881, USA
    Mol Pharmacol 79:662-71. 2011
    ..These data suggest that β(2)Asp163 and α(1)Arg120 form a state-dependent salt bridge, interacting when GABA is bound to the receptor but not when the receptor is in the unbound state...
  24. doi Identification of GABRA1 and LAMA2 as new DNA methylation markers in colorectal cancer
    Sunwoo Lee
    Genomictree Inc, Daejeon, Republic of Korea
    Int J Oncol 40:889-98. 2012
    ..the two gene-sets, we subsequently selected, through stepwise subtraction processes, two novel genes, GABRA1 and LAMA2, as methylation targets in colorectal cancer...
  25. doi Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms
    Ke Sheng Wang
    Department of Biostatistics and Epidemiology, College of Public Health, East Tennessee State University, Johnson City, TN 37614 1700, USA
    J Neural Transm (Vienna) 119:425-33. 2012
    ..0013 and 0.0162, respectively). In addition, several SNPs in GABRA1, GABRG1, and GABRG3 were associated with AWS (p < 10(-2)) in the COGA sample...
  26. pmc The altered expression of α1 and β3 subunits of the gamma-aminobutyric acid A receptor is related to the hepatitis C virus infection
    M Sidorkiewicz
    Department of Medical Biochemistry, Medical University of Łódź, Łódź, Poland
    Eur J Clin Microbiol Infect Dis 31:1537-42. 2012
    ..The modulation of α1 and β3 GABA A receptors subunits expression in PBMCs may be associated with ongoing or past HCV infection...
  27. doi miR-155 is up-regulated in primary and secondary glioblastoma and promotes tumour growth by inhibiting GABA receptors
    Pietro I D'Urso
    Department of Biological and Environmental Sciences and Technologies, DiSTeBA, University of Salento, I 73100 Lecce, Italy
    Int J Oncol 41:228-34. 2012
    ..We hypothesised that γ-aminobutyric acid A receptor 1 (GABRA1) is a miR-155 target, and studied the correlation between miR-155 up-regulation and the GABRA1 protein in cultured ..
  28. pmc A unified model of the GABA(A) receptor comprising agonist and benzodiazepine binding sites
    Rikke Bergmann
    Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
    PLoS ONE 8:e52323. 2013
    ..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...
  29. doi Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy
    Shinichi Hirose
    Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan Central Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Fukuoka, Japan Electronic address
    Prog Brain Res 213:55-85. 2014
    ..In fact, mutations or genetic variations 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 ..
  30. pmc Adolescent-onset GABAA α1 silencing regulates reward-related decision making
    Laura M Butkovich
    Graduate Program in Neuroscience, Emory University, Atlanta, GA, USA
    Eur J Neurosci 42:2114-21. 2015
    ..selectively in the medial prefrontal cortex (prelimbic subregion) of mice using viral-mediated gene silencing of Gabra1. Adolescent-onset Gabra1 knockdown delayed the acquisition of a cocaine-reinforced instrumental response but ..
  31. pmc Gene expression profiling analysis of MENX-associated rat pituitary adenomas contributes to understand molecular mechanisms of human pituitary adenomas
    Hongzhi Zhang
    Department of Neurology, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai 201203, P R China
    Oncol Lett 11:125-133. 2016
    ..These DEGs interacted with each other. The downregulated DEGs (e.g., GABRA1, GABRA4 and GABRB1) also interacted with each other, and were relevant to neuroactive ligand-..
  32. doi c-Jun N-terminal Kinase mediates prostaglandin-induced sympathoexcitation in rats with chronic heart failure by reducing GAD1 and GABRA1 expression
    R Wang
    Department of Biotechnology, School of Life Science, Jilin Normal University, Siping, China
    Acta Physiol (Oxf) 219:494-509. 2017
    ..The aim of this study was to investigate the role of c-Jun N-terminal kinase (JNK) in expressional regulation of gamma-aminobutyric acid signalling in PVN in CHF rats...
  33. doi Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies
    Katrine Johannesen
    Authors affiliations are listed at the end of the article
    Neurology 87:1140-51. 2016
    To delineate phenotypic heterogeneity, we describe the clinical features of a cohort of patients with GABRA1 gene mutations.
  34. doi Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1
    Bernt Popp
    Institute of Human Genetics, Friedrich Alexander Universität Erlangen Nürnberg FAU, Erlangen, Germany Electronic address
    Eur J Med Genet 59:549-53. 2016
    ..Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy...
  35. pmc Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies
    Rikke S Møller
    Danish Epilepsy Centre, University of Southern Denmark, Denmark Institute for Regional Health Services, University of Southern Denmark, Denmark
    Mol Syndromol 7:210-219. 2016
    ..The variants were found in 19 different genes including SCN1A, STXBP1, CDKL5, SCN2A, SCN8A, GABRA1, KCNA2, and STX1B...
  36. ncbi Effects of UGT1A6 and GABRA1 on Standardized Valproic Acid Plasma Concentrations and Treatment Effect in Children With Epilepsy in China
    Weixing Feng
    Department of Neurology, Beijing Children s Hospital affiliated to Capital Medical University Department of Pediatrics, Beijing Tiantan Hospital, Capital Medical University Pharmacy, Beijing Tiantan Hospital, Capital Medical University and Department of Clinical Pharmacology, College of Pharmaceutical Sciences, Capital Medical, Beijing, China
    Ther Drug Monit 38:738-743. 2016
    ..This study aimed to evaluate the effects of various genetic variations on normalized plasma concentration of VPA (NCVPA) and the treatment response in Chinese children with epilepsy administered with VPA...
  37. ncbi High-resolution physical mapping of human 5q31-q33 using three methods: radiation hybrid mapping, interphase fluorescence in situ hybridization, and pulsed-field gel electrophoresis
    J A Warrington
    Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717
    Genomics 24:395-8. 1994
    ..the predicted order of the 12 loci is cen-ADRB2-PDEA-CSF1R-RPS14-ANX6-SPARC++ +-GLRA1-GLUR1-ADRA1B-IL12- GABRG2-GABRA1-tel...
  38. ncbi Association of GABA(A) receptors and alcohol dependence and the effects of genetic imprinting
    Jiuzhou Song
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, 635 Barnhill Drive, Indianapolis, Indiana 46202 5122, USA
    Am J Med Genet B Neuropsychiatr Genet 117:39-45. 2003
    ..03). Genes encoding GABRA1 and GABRA6, on chromosome 5, did not provide evidence for association with alcoholism...
  39. ncbi Comparative cellular distribution of GABAA and GABAB receptors in the human basal ganglia: immunohistochemical colocalization of the alpha 1 subunit of the GABAA receptor, and the GABABR1 and GABABR2 receptor subunits
    Henry J Waldvogel
    Department of Anatomy with Radiology, Faculty of Medical and Health Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand
    J Comp Neurol 470:339-56. 2004
    ..GABA also acts through GABA(A) receptors containing the alpha(1) subunit on specific striatal GABAergic interneurons and on output neurons of the globus pallidus and substantia nigra pars reticulata...
  40. ncbi No association of the GABAA receptor genes on chromosome 5 with alcoholism in the collaborative study on the genetics of alcoholism sample
    Danielle M Dick
    Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut St, Indianapolis, IN 46202 525, USA
    Am J Med Genet B Neuropsychiatr Genet 132:24-8. 2005
    ..Chromosome 5 contains a cluster of GABA(A) receptor genes, GABRA1, GABRA6, GABRB2, and GABRG2, which have been among the most extensively studied in relation to alcohol use...
  41. ncbi [Advances in the studies on the molecular and genetic aspects of epilepsy]
    Xu Wang
    Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan 430074, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 27:388-93. 2005
    ..SCN1A, SCN2A, and SCN1B, chloride channels CLCN2, and ligand-gated ion channels CHRNA4, CHRNB2, GABRG2, and GABRA1. Interestingly, non-ion channel genes have also been identified as epilepsy genes, and these genes include G-..
  42. pmc Regulation of GABA(A) receptor dynamics by interaction with purinergic P2X(2) receptors
    Amulya Nidhi Shrivastava
    Department of Biochemistry and Molecular Biology, Center for Brain Research, Medical University of Vienna, Vienna 1090, Austria
    J Biol Chem 286:14455-68. 2011
    ..We further conclude that blocking the excitatory activity of excessively released ATP under diseased state by P2XR antagonists could simultaneously enhance synaptic inhibition mediated by GABA(A)Rs...
  43. pmc Selective pyramidal cell reduction of GABA(A) receptor α1 subunit messenger RNA expression in schizophrenia
    Jill R Glausier
    Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA
    Neuropsychopharmacology 36:2103-10. 2011
    ..The cell type specificity of these findings may reflect a compensatory response to enhance layer 3 pyramidal cell activity in the face of the diminished excitatory drive associated with the lower dendritic spine density on these neurons...
  44. doi Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy
    Pamela Lachance-Touchette
    Centre for Excellence in Neuromics of University of Montreal, CHUM Research Center, 1560 Sherbrooke Est, Montreal, QC, Canada H2L 4M1
    Eur J Neurosci 34:237-49. 2011
    ..of additional 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)...
  45. pmc Characterisation of the contribution of the GABA-benzodiazepine α1 receptor subtype to [(11)C]Ro15-4513 PET images
    James F M Myers
    Psychopharmacology Unit, University of Bristol, Bristol, UK
    J Cereb Blood Flow Metab 32:731-44. 2012
    ..The proposed method for [(11)C]Ro15-4513 analysis may allow more accurate selective binding assays and estimation of drug occupancy for other nonselective ligands...
  46. ncbi [Relationship between gene polymorphism of GABAA receptors gene and childhood autism]
    Guo Bin Lu
    Fujian Provincial Maternal and Child Health Hospital, Fuzhou 350001, China
    Zhonghua Yu Fang Yi Xue Za Zhi 46:460-4. 2012
    ..To explore the relationship between gene polymorphism of GABAA receptors and childhood autism by detecting rs140682, rs2081648 and rs140679 site of single nucleotide polymorphism (SNP) in GABAA receptors gene...
  47. pmc Probing the structural basis for differential KCNQ1 modulation by KCNE1 and KCNE2
    Yuhong Wang
    Department of Physiology and Biophysics, Virginia Commonwealth University, Richmond, VA 23298, USA
    J Gen Physiol 140:653-69. 2012
    ..plays a key role in modulating KCNQ1 pore conductance and gating kinetics, and the extracellular juxtamembrane (EJM) region plays a modulatory role by interacting with the extracellular surface of KCNQ1...
  48. doi Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population
    Carla V Sesarini
    Instituto de Ciencias Básicas y Medicina Experimental ICBME, CABA, Argentina
    Autism Res 7:162-6. 2014
    ..Single-nucleotide polymorphisms (SNP) located within the GABA receptor (GABAR) subunit genes GABRA1, GABRG2, GABRB3, and GABRD were screened...
  49. pmc GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
    Gemma L Carvill
    From the Division of Genetic Medicine, Department of Pediatrics G L C, C H, J C, E G, H C M, and the Department of Genome Sciences J S, University of Washington, Seattle Neurogenetics Group S W, Department of Molecular Genetics, VIB, Antwerp Laboratory of Neurogenetics S W, A s, P D J, Institute Born Bunge, University of Antwerp, Belgium Epilepsy Centre Kempenhaeghe S W, Oosterhout, the Netherlands Epilepsy Research Centre J M M, S F B, I E S, Department of Medicine, University of Melbourne, Austin Health, Australia Department of Neuropediatrics C H, H M, S V S, I H, University Medical Center, Schleswig Holstein, Christian Albrechts University, Kiel, Germany Danish Epilepsy Centre R S M, H H, M N, Polar Desert Research Center
    Neurology 82:1245-53. 2014
    ..To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing...
  50. pmc A novel variant in GABRB2 associated with intellectual disability and epilepsy
    Siddharth Srivastava
    Hugo W Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland
    Am J Med Genet A 164:2914-21. 2014
    ..Mutations in genes encoding various subunits of this receptor (GABRA1, GABRA2, GABRA4, GABRA5, GABRA6, GABRB1, GABRB3, GABRG1, GABRG2, GABRG3, and GABRD) are implicated in a number of ..
  51. pmc Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?
    Gilles van Luijtelaar
    Donders Centre of Cognition, Radboud University Nijmegen, Nijmegen, The Netherlands Electronic address
    Neurobiol Dis 72:167-79. 2014
    ..females show a higher incidence than prepubertal males), BN model (also with a higher prevalence in males) and the Gabra1 deletion mouse in the C57BL/6J strain offer unique possibilities for the investigation of the mechanisms involved ..
  52. pmc Expression quantitative trait loci and receptor pharmacology implicate Arg1 and the GABA-A receptor as therapeutic targets in neuroblastoma
    Christopher S Hackett
    Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA
    Cell Rep 9:1034-46. 2014
    ..These results suggest that ARG1 and GABA influence both neural development and neuroblastoma and that benzodiazepines in clinical use may have potential applications for neuroblastoma therapy...
  53. doi Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice
    Sirli Raud
    Department of Physiology, Institute of Bio and Translational Medicine, University of Tartu, Tartu, Estonia Centre for Excellence in Translational Medicine, University of Tartu, Estonia Electronic address
    Neuropharmacology 95:59-67. 2015
    ..No changes were detected in Gabra1 and Gabra3 mRNA following ethanol treatment...
  54. pmc Insights into Human Astrocyte Response to H5N1 Infection by Microarray Analysis
    Xian Lin
    State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University, Wuhan 430070, China
    Viruses 7:2618-40. 2015
    ..expressions related to the neuroactive ligand-receptor interaction pathway at 24 hpi, such as MC2R, CHRNG, P2RY13, GABRA1, and HRH2, which participant in synaptic transmission and may take part in CNS disorders induced by H5N1 infection...
  55. doi Assembly, trafficking and function of α1β2γ2 GABAA receptors are regulated by N-terminal regions, in a subunit-specific manner
    Lik Wei Wong
    Health Innovation Research Institute, School of Medical Sciences, RMIT University, Melbourne, Vic, Australia
    J Neurochem 134:819-32. 2015
    ..Indeed, robust receptor levels remain when the extension and α-helix are removed in β or γ subunits...
  56. doi Genetic Causes of Generalized Epilepsies
    Ingo Helbig
    Division of Neurology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Semin Neurol 35:288-92. 2015
    ..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...
  57. pmc Subregional Expression of Hippocampal Glutamatergic and GABAergic Genes in F344 Rats with Social Isolation after Weaning
    Hisaya Iwata
    Laboratory of Animal Genetics and Physiology, Department of Animal Science, College of Bioresource Sciences, Nihon University, Fujisawa, Kanagawa, Japan
    Comp Med 66:4-9. 2016
    ..In contrast, pwSI tended to 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 ..
  58. doi De novo GABRA1 mutations in Ohtahara and West syndromes
    Hirofumi Kodera
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    Epilepsia 57:566-73. 2016
    b>GABRA1 mutations have been identified in patients with familial juvenile myoclonic epilepsy, sporadic childhood absence epilepsy, and idiopathic familial generalized epilepsy...
  59. pmc Long-Term Estrogen Receptor Beta Agonist Treatment Modifies the Hippocampal Transcriptome in Middle-Aged Ovariectomized Rats
    Miklós Sárvári
    Laboratory of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences Budapest, Hungary
    Front Cell Neurosci 10:149. 2016
    ..Crhr2, Oprm1, Gnrhr, Galr2, Sstr1, Sstr3), neurotransmitter receptors (Htr1a, Htr2c, Htr2a, Gria2, Gria3, Grm5, Gabra1, Chrm5, Adrb1), and vesicular neurotransmitter transporters (Slc32a1, Slc17a7)...
  60. pmc Dynamics of sensorimotor cortex activation during absence and myoclonic seizures in a mouse model of juvenile myoclonic epilepsy
    Li Ding
    Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, U S A
    Epilepsia 57:1568-1580. 2016
    ..Recently, we reported that mice with a juvenile myoclonic epilepsy mutation (Gabra1[A322D]) exhibited both absence and myoclonic generalized seizures...
  61. pmc Understanding Genotypes and Phenotypes in Epileptic Encephalopathies
    Ingo Helbig
    Division of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA Division of Department of Neuropediatrics, Christian Albrechts University of Kiel and University Medical Center Schleswig Holstein UKSH, Kiel, Germany
    Mol Syndromol 7:172-181. 2016
    ..phenotypes can be seen in patients with mutations in PCDH19, CHD2, SCN8A, or in rare cases GABRA1 and STXBP1...
  62. doi Comprehensive association analysis of 27 genes from the GABAergic system in Japanese individuals affected with schizophrenia
    Shabeesh Balan
    Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama 351 0198, Japan
    Schizophr Res . 2017
    ..Two SNPs located in the GABRA1 gene, rs4263535 (Pallele=0.002; uncorrected) and rs1157122 (Pallele=0...
  63. pmc The effect of STAT3 inhibition on status epilepticus and subsequent spontaneous seizures in the pilocarpine model of acquired epilepsy
    H L Grabenstatter
    Department of Pediatrics, Division of Neurology and Translational Epilepsy Research Program, University of Colorado School of Medicine, Aurora, CO, USA
    Neurobiol Dis 62:73-85. 2014
    ..Protein and/or mRNA levels for pSTAT3, and STAT3-regulated genes including: ICER, Gabra1, c-myc, mcl-1, cyclin D1, and bcl-xl were evaluated in WP1066 and vehicle-treated rats during stages of ..
  64. ncbi Evidence of association between gamma-aminobutyric acid type A receptor genes located on 5q34 and female patients with mood disorders
    Kazuo Yamada
    Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
    Neurosci Lett 349:9-12. 2003
    ..In the present study, we examined GABA(A) receptor alpha1 (GABRA1), alpha6 (GABRA6) and gamma2 (GABRG2) subunit genes on 5q34...
  65. ncbi Regulation of the expression of GABAA receptor subunits by an antiepileptic drug QYS
    Xianchun Li
    Key Lab of Brain Functional Genomics, MOE and STCSM, Shanghai Institute of Brain Functional Genomics, East China Normal University, Shanghai
    Neurosci Lett 392:145-9. 2006
    ..The results showed that treatment of QYS significantly increased the expressions of Gabra1, Gabra2 and Gabr4 and decreased the expression of Gabrg2 in inferior colliculus...
  66. ncbi Seizures of idiopathic generalized epilepsies
    Reyna M Duron
    California Comprehensive Epilepsy Program, David Geffen School of Medicine at UCLA, Los Angeles, CA 90073, USA
    Epilepsia 46:34-47. 2005
    ..Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 ..
  67. ncbi A high-resolution comparative radiation hybrid map of equine chromosome 4q12-q22
    C Dierks
    Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Bunteweg 17p, 30559 Hannover, Germany
    Anim Genet 37:513-7. 2006
    In this study, we present a comprehensive 5000-rad radiation hybrid map of a 40-cM region on equine chromosome 4 (ECA4) that contains quantitative trait loci for equine osteochondrosis...
  68. ncbi Increased GABA(A)-receptor alpha1-subunit expression in hippocampal dentate gyrus after early-life status epilepticus
    YogendraSinh H Raol
    Division of Neurology, Pediatric Regional Epilepsy Program, Children s Hospital of Philadelphia, Philapelphia, Pennsylvania, USA
    Epilepsia 47:1665-73. 2006
    ..and adult rats suggest that status epilepticus (SE) induces changes in the alpha1 subunit of the GABA(A) receptor (GABRA1) in dentate granule neurons (DGNs) that are age dependent and vary inversely with the likelihood of epilepsy ..
  69. ncbi Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor
    Yutaka Kurano
    Department of Psychiatry, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima 890 8520, Japan
    Biochem Biophys Res Commun 351:438-42. 2006
    ..protein, we compared the protein-level expression and localization of gephyrin and the GABA(A) receptor alpha1 (GABRA1) and gamma2 (GABRG2) subunits...
  70. ncbi Adult-onset autosomal dominant myoclonic epilepsy: report of a family with an overlooked epileptic syndrome
    Yue Loong Hsin
    Department of Neurology, Buddhist Tzu Chi General Hospital, and Institute of Medical Sciences, Buddhist Tzu Chi University, Hualien, Taiwan
    Seizure 16:160-5. 2007
    ..Myoclonic epilepsy is a common epileptic syndrome with high genetic contribution. We described a pedigree in which 10 individuals presented with a non-progressive, adult-onset myoclonic epilepsy...
  71. pmc Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia
    Monica Beneyto
    Department of Psychiatry, University of Pittsburgh, W1656 Biomedical Science Tower, 3811 O Hara Street, Pittsburgh, PA 15213, USA
    Cereb Cortex 21:999-1011. 2011
    ....
  72. doi Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy
    José Carlos de Moura
    Department of Surgery and Anatomy, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo USP, SP, Brazil
    Hippocampus 22:92-7. 2012
    ..Our results suggest that the NR1 subunit of NMDA receptors is involved in the amygdala hyperexcitability in some of the patients with TLE...
  73. doi Lower anxiety and a decrease in agonistic behaviour in Lsamp-deficient mice
    Jürgen Innos
    Department of Physiology, University of Tartu, Tartu, Estonia
    Behav Brain Res 217:21-31. 2011
    ..possible explanation for the anxiolytic-like effect of the deletion of the Lsamp gene is a shift in balance in the Gabra1 and Gabra2 genes in the temporal lobe in favor of the Gabra2 transcript, encoding α2 subunit of GABA(A) receptors ..
  74. pmc Discrete M3-M4 intracellular loop subdomains control specific aspects of γ-aminobutyric acid type A receptor function
    Kate K O'Toole
    Department of Anesthesiology, Emory University, Atlanta, Georgia 30322, USA
    J Biol Chem 286:37990-9. 2011
    ..Within this subdomain, the α1(K378E) mutation induced a significant reduction in single channel conductance, consistent with our hypothesis that the GABA(A)R α1 ILD contributes directly to the permeation pathway...
  75. doi Increased DNA methylation of neuropsychiatric genes occurs in borderline personality disorder
    Gerhard Dammann
    Psychiatric Hospital, Muensterlingen, Switzerland
    Epigenetics 6:1454-62. 2011
    ..In our study we analyzed DNA methylation patterns of 14 neuropsychiatric genes (COMT, DAT1, GABRA1, GNB3, GRIN2B, HTR1B, HTR2A, 5-HTT, MAOA, MAOB, NOS1, NR3C1, TPH1 and TH)...
  76. ncbi [The expression of GABA(A) receptor alpha1 and GABA(B) receptor 1 in medulla oblongata solitary nucleus and ambiguous nucleus in the cases of tramadol intoxication]
    Shu Zhang
    Department of Forensic Pathology, School of Forensic Medicine, China Medical University, Shenyang 110001, China
    Fa Yi Xue Za Zhi 27:401-4. 2011
    ..To observe the expression of GABA(A) receptor alpha1 (GABA(A)alpha1) and GABA(B) receptor 1 (GABA(B)1) in human medulla oblongata solitary nucleus and ambiguous nucleus due to tramadol-induced death...
  77. pmc Complex control of GABA(A) receptor subunit mRNA expression: variation, covariation, and genetic regulation
    Megan K Mulligan
    Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee, United States of America
    PLoS ONE 7:e34586. 2012
    ..Expression of Gabra1, Gabra2, Gabrb2, Gabrb3, and Gabrg2 is highly variable and heritable among the large cohort of BXD strains derived ..
  78. pmc Down-regulation of GABA(A) receptor via promiscuity with the vasoactive peptide urotensin II receptor. Potential involvement in astrocyte plasticity
    Laurence Desrues
    Inserm U982, Laboratory of Neuronal and Neuroendocrine Communication and Differentiation, Astrocyte and Vascular Niche, University of Rouen, Mont Saint Aignan, France
    PLoS ONE 7:e36319. 2012
    ..This UII-induced disappearance of the repressor activity of GABA(A)R, may play a key role in the initiation of astrocyte proliferation...
  79. doi Tlx1/3 and Ptf1a control the expression of distinct sets of transmitter and peptide receptor genes in the developing dorsal spinal cord
    Zhen Guo
    Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China
    J Neurosci 32:8509-20. 2012
    ..We found that receptor genes Gabra1, Gabra5, Gabrb2, Gria3, Grin3a, Grin3b, Galr1, and Npy1r were preferentially expressed in Tlx3-expressing ..
  80. pmc Potential Impact of miR-137 and Its Targets in Schizophrenia
    Carrie Wright
    Department of Neurosciences, Health Sciences Center, University of New Mexico Albuquerque, NM, USA
    Front Genet 4:58. 2013
    ..miR-137 targets, there are other schizophrenia-associated genes that may be targets of miR-137, including ERBB4, GABRA1, GRIN2A, GRM5, GSK3B, NRG2, and HTR2C...
  81. doi γ-Amino-butyric acid (GABA) receptor subunit and transporter expression in the gonad and liver of the fathead minnow (Pimephales promelas)
    Katie Biggs
    Department of Biology, University of New Brunswick, Saint John, New Brunswick E2L 4L5, Canada
    Comp Biochem Physiol A Mol Integr Physiol 166:119-27. 2013
    ..gad65, gad67, vesicular GABA transporter (vgat) and GABA transporter 1 (gat1), and select GABAA receptor subunits (gabra1, gabra5, gabrb1, gabrb2, gabrg1, gabrg2)...
  82. pmc Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human α1β3γ2 γ-aminobutyric acid type A (GABAA) receptor
    David C Chiara
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Biol Chem 288:19343-57. 2013
    ..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. ..
  83. doi Gene-wide tagging study of the effects of common genetic polymorphisms in the α subunits of the GABA(A) receptor on epilepsy treatment response
    Chin Chuan Hung
    Department of Pharmacy, College of Pharmacy, China Medical University, Taichung, Taiwan and Department of Pharmacy, China Medical University Hospital, Taichung, Taiwan
    Pharmacogenomics 14:1849-56. 2013
    ..We aimed to identify the effect of SNPs in the α-subunits of GABAA receptors on epilepsy treatment outcomes by using a gene-wide tagging method...
  84. doi Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies
    Ozlem Yalcin
    Department of Molecular Biology and Genetics, T C Istanbul Arel University, Tepekent Buyukcekmece, Istanbul, Turkey
    Seizure 21:79-86. 2012
    ..mutations and susceptibility alleles determined in the genes that code for the subunits of GABA receptors (GABRG2, GABRA1, GABRB3, GABRA5, GABA(B1) and GABA(B2)), calcium channels (CACNA1A, CACNA1G, CACNA1H, CACNA1I, CACNAB4, CACNAG2 ..
  85. pmc Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q
    S G Ryan
    Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284
    Am J Hum Genet 51:1334-43. 1992
    ..RH mapping eliminated the candidate genes GABRA1 and GABRG2, which encode GABA-A receptor components, by showing that they are telomeric to the target region.
  86. ncbi Radiation hybrid map of 13 loci on the long arm of chromosome 5
    J A Warrington
    Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717
    Genomics 11:701-8. 1991
    ..encoding growth factors, growth factor receptors, or hormone receptors (IL3, IL4, IL5, CSF1R, FGFA, ADRB2, GRL, GABRA1, and DRD1) as well as four other loci (FER, SPARC, RPS14, and CD14) to generate a radiation hybrid map of the area ..
  87. ncbi Further evidence for clustering of human GABAA receptor subunit genes: localization of the alpha 6-subunit gene (GABRA6) to distal chromosome 5q by linkage analysis
    A A Hicks
    MRC Molecular Neurobiology Unit, MRC Centre, Cambridge, United Kingdom
    Genomics 20:285-8. 1994
    ..87 at a theta of 0.069 (males) and 0.100 (females). These results reveal the clustering of GABRA6, GABRA1, and the GABAA receptor gamma 2-subunit gene (GABRG2) on distal chromosome 5q.
  88. ncbi Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33
    M Kostrzewa
    Institut fur Humangenetik, Justus Liebig Universitat Giessen, Germany
    Eur J Hum Genet 4:199-204. 1996
    A gene cluster 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...
  89. pmc A primary male autosomal linkage map of the horse genome
    G Lindgren
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, S 751 24 Uppsala, Sweden
    Genome Res 8:951-66. 1998
    ..into 25 linkage groups, 22 of which could be assigned physically to 18 different chromosomes (ECA1, ECA2, ECA3, ECA4, ECA5, ECA6, ECA7, ECA9, ECA10, ECA11, ECA13, ECA15, ECA16, ECA18, ECA19, ECA21, ECA22, and ECA30)...
  90. ncbi No interaction of GABA(A) alpha-1 subunit and dopamine receptor D4 exon 3 genes in symptomatology of major psychoses
    A Serretti
    Department of Neuroscience, Istituto Scientifico H San Raffaele, University of Milan School of Medicine, Italy
    Am J Med Genet 88:44-9. 1999
    ..cohort of subjects to evaluate the gene for the gamma-aminobutyric acid type A (GABA(A)) receptor alpha-1 subunit (GABRA1)...
  91. ncbi Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
    Patrick Cossette
    Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada
    Nat Genet 31:184-9. 2002
    ..We report that an Ala322Asp mutation in GABRA1, encoding the alpha1 subunit of the gamma-aminobutyric acid receptor subtype A (GABA(A)), is found in affected ..
  92. ncbi Association of protein kinase C with GABA(A) receptors containing alpha1 and alpha4 subunits in the cerebral cortex: selective effects of chronic ethanol consumption
    Sandeep Kumar
    Bowles Center for Alcohol Studies, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599 7178, USA
    J Neurochem 82:110-7. 2002
    ..These results suggest that PKCgamma may be involved in GABA(A) receptor adaptations following chronic ethanol consumption...
  93. ncbi Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han
    Y T Chang
    Mol Psychiatry 7:828-9. 2002
  94. ncbi Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses
    Jian Wang
    Neuroscience Research Group, Department of Physiology and Biophysics, Faculty of Medicine, University of Calgary, Calgary, Canada, T2N 4N1
    J Neurosci 23:826-36. 2003
    ..Thus, an activity-dependent physical and functional interaction between CaN and GABA(A) receptors is both necessary and sufficient for inducing LTD at CA1 individual inhibitory synapses...
  95. ncbi Association analysis of exonic variants of the GABA(B)-receptor gene and alpha electroencephalogram voltage in normal subjects and alcohol-dependent patients
    Georg Winterer
    Department of Psychiatry, Benjamin Franklin University Hospital, Free University of Berlin, Berlin, Germany
    Behav Genet 33:7-15. 2003
    ....
  96. ncbi Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India
    A Kapoor
    Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Jakkur, Bangalore 560 064, India
    J Genet 82:17-21. 2003
    An Ala322Asp mutation in the GABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family...
  97. ncbi A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties
    Janet L Fisher
    Department of Pharmacology, Physiology and Neuroscience, University of South Carolina School of Medicine, Blg 1 Rm D23, Columbia, SC 29209, USA
    Neuropharmacology 46:629-37. 2004
    ..Therefore, production of the mutated subunit could cause global hyperexcitability throughout the brain, leading to generalized seizures with juvenile onset...
  98. ncbi Gating allosterism at a single class of etomidate sites on alpha1beta2gamma2L GABA A receptors accounts for both direct activation and agonist modulation
    Dirk Rüsch
    Department of Anesthesia and Critical Care, Massachusetts General Hospital, Boston, MA 02114, USA
    J Biol Chem 279:20982-92. 2004
    ..This model also correctly predicts the actions of etomidate on GABA(A) receptors containing a point mutation that increases constitutive gating activity...
  99. ncbi GABAA receptor alpha1 and alpha6 subunits mediate cell surface anchoring in cultured cells
    Macarena Peran
    Departamento de Bioquimica, Facultad de Medicina, Universidad de Malaga, Campus de Teatinos, Malaga 29080, Spain
    Neurosci Lett 364:67-70. 2004
    ..We show that the alpha1 and alpha6 subunits immobilize recombinant GABAAR in transfected cells. This is consistent with the immobility of native receptors in CG cells, which express alpha1 and alpha6...
  100. ncbi The juvenile myoclonic epilepsy GABA(A) receptor alpha1 subunit mutation A322D produces asymmetrical, subunit position-dependent reduction of heterozygous receptor currents and alpha1 subunit protein expression
    Martin J Gallagher
    Department of Neurology, Vanderbilt University, Nashville, Tennessee 37212, USA
    J Neurosci 24:5570-8. 2004
    ....
  101. ncbi Effects on fear reactivity in XO mice are due to haploinsufficiency of a non-PAR X gene: implications for emotional function in Turner's syndrome
    Anthony R Isles
    Neurobiology and Developmental Genetics Programmes, The Babraham Institute, Cambridge, UK
    Hum Mol Genet 13:1849-55. 2004
    ..levels of a number of GABAA subunits previously shown to be important components of fear processing (Gabra3, Gabra1 and Gabrg2) were also altered...

Research Grants15

  1. Shelley J Russek; Fiscal Year: 2016
    ..identified long-term changes in GABAR a subunit gene expression, including decreases in expression of the a1 gene (Gabra1) in rat hippocampal dentate granule neurons following status epilepticus (SE) that are associated with later ..
  2. Martin J Gallagher; Fiscal Year: 2014
    ..The hypotheses to be tested are: 1) because 11 subunit expression increases throughout development, GABRA1 epilepsy mutations will reduce total GABAAR subunit protein and produce neurons with smaller IPSC amplitudes ..
  3. GABA-A Receptor Gene Transfer to Prevent Epileptogenesis
    SHELLEY RUSSEK; Fiscal Year: 2004
    ..expression play a critical role in the process of epileptogenesis by re- establishing normal levels of GABRA4 and GABRA1 following pilocarpine-induced SE and determining whether development of spontaneous seizures is subsequently ..
  4. Parent and Peer Influences on Alcohol Use Problems: A Genetically Informed Study
    KAITLIN ELIZABETH BOUNTRESS; Fiscal Year: 2013
    ..g. DRD2, DAT1, GABRA1, and OPRM1)...
  5. Vulnerability Factors and Drinking in Adulthood
    Michael Windle; Fiscal Year: 2009
    ..The DNA from the 782 adults will be used to conduct candidate gene analyses for GABRA2, GABRA1, CHRM2, CRHR1, CNR1, 5HTTLPR, and DRD2 for alcohol and depression phenotypes...
  6. Dimensions and Polarity of Anesthetic Binding SItes
    James Trudell; Fiscal Year: 2004
    ..Building a more complete 3-dimensional model of an anesthetic binding site will allow us to define those molecular properties that confer distinct pharmacologies on volatile anesthetics. ..
  7. Properties of Specific Alcohol Binding Sites
    James Trudell; Fiscal Year: 2009
    ..The results may reveal general motifs for action in other systems affected by alcohol and aid in the design of alcohol antagonists. ..
  8. TREATMENT FOR ALCHOLISM: A PRIMATE MODEL
    KELLY COSGROVE; Fiscal Year: 2002
    ..Thus, the effects of bremazocine and naltrexone on ethanol self-administration as a function of sex will be investigated. ..
  9. Lafora's Progressive Myoclonus Epilepsy
    Antonio Delgado Escueta; Fiscal Year: 2003
    ..3) Search for the second gene (EPM2B) for Lafora's PME. These advances raise our hopes for developing treatment(s) for this fatal epilepsy. ..
  10. PKA & PKC REGULATION OF NT2-N & RECOMBINANT GABARS
    Robert MacDonald; Fiscal Year: 2003
    ..7) The NT2 and NT2-N GABAR subtype protein phosphorylated by PKA and PKC. 8) The biophysical mechanisms PKA and PKC modification of NT2 and NT2-N GABAR currents. ..
  11. GABAA RECEPTOR CHANNEL ALTERATION BY PROLONGED SEIZURES
    Robert MacDonald; Fiscal Year: 2003
    ....
  12. Physiologic Analysis of Two GABAR Gamma2-Subunit Domains
    Martin Gallagher; Fiscal Year: 2006
    ..Such an environment maximizes the probability that the principal investigator will establish a scientific niche and embark upon a successful independent academic career. ..
  13. Structural Determinants of GABA-A receptor function
    Janet Fisher; Fiscal Year: 2007
    ..The results of this work will help us to understand how variations in the alpha subunit composition of native GABARs can affect the properties of neurons and their responses to GABA. ..
  14. Varenicline and Smoking Cessation in Schizophrenia
    SEYYED HOSSEIN FATEMI; Fiscal Year: 2010
    ..Such outcomes will be significant, because they will offer a new treatment for smoking cessation in this vulnerable population. ..
  15. Prenatal Virally Induced Brain Disorder in Mouse
    SEYYED FATEMI; Fiscal Year: 2009
    ..In addition, it is expected that the results will provide clues that will lead to fundamental advances in our knowledge of the pathogenesis of schizophrenia and, therefore, of how it can be prevented and treated. ..