| 1 | CACNA1A, EIEE41, EIEE42, EIEE43, GABRB3, SLC1A2
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| De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
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| Epi4K Consortium.
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| Am J Hum Genet 99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28. 2016
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| 2 | GABRB3
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| Sex differences in cerebellar synaptic transmission and sex-specific responses to autism-linked Gabrb3 mutations in mice.
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| Mercer AA, Palarz KJ, Tabatadze N, Woolley CS, Raman IM.
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| Elife 5. pii: e07596. doi: 10.7554/eLife.07596.
2016
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| 3 | EIEE43, EIEE45, GABRB1, GABRB3
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| Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function.
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| Janve VS, Hernandez CC, Verdier KM, Hu N, Macdonald RL.
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| Ann Neurol nn Neurol. 2016 Mar 7. doi: 10.1002/ana.24631. [Epub ahead of print]
2016
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| 4 | EIEE43, GABRB3
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| GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
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| Papandreou A, McTague A, Trump N, Ambegaonkar G, Ngoh A, Meyer E, Scott RH, Kurian MA.
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| Dev Med Child Neurol 58(4):416-20. doi: 10.1111/dmcn.12976.
2016
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| 5 | FMR1, GABRB3, GRM5
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| Hippocampal dysregulation of FMRP/mGluR5 signaling in engrailed-2 knockout mice: a model of autism spectrum disorders.
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| Provenzano G, Sgadò P, Genovesi S, Zunino G, Casarosa S, Bozzi Y.
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| Neuroreport 26(18):1101-5. doi: 10.1097/WNR.0000000000000477.
2015
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| 6 | GABRB3
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| Association analysis of GABRB3 promoter variants with heroin dependence.
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| Chen CH, Huang CC, Liao DL.
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| PLoS One 9(7):e102227. doi: 10.1371/journal.pone.0102227.
2014
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| 7 | GABRA5, GABRB3
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| Evidence for linkage and association of GABRB3 and GABRA5 to panic disorder.
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| Hodges LM, Fyer AJ, Weissman MM, Logue MW, Haghighi F, Evgrafov O, Rotondo A, Knowles JA, Hamilton SP.
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| Neuropsychopharmacology 39(10):2423-31. doi: 10.1038/npp.2014.92. Epub 2014 May 23.
2014
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| 8 | GABRB3
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| Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism.
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| Warrier V, Baron-Cohen S, Chakrabarti B.
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| Mol Autism 4(1):48. doi: 10.1186/2040-2392-4-48.
2013
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| 9 | ALG13, CDG1S, ECA5, GABRB3
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| De novo mutations in epileptic encephalopathies.
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| Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR.
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| Nature 501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
2013
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| 10 | GABRB2, GABRB3
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| Direct binding of GABAA receptor β2 and β3 subunits to gephyrin.
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| Kowalczyk S, Winkelmann A, Smolinsky B, Förstera B, Neundorf I, Schwarz G, Meier JC.
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| Eur J Neurosci 37(4):544-54. doi: 10.1111/ejn.12078.
2013
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| 11 | GABRB3
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| Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children.
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| Tavassoli T, Auyeung B, Murphy LC, Baron-Cohen S, Chakrabarti B.
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| Mol Autism 3(1):6. doi: 10.1186/2040-2392-3-6.
2012
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| 12 | ECA5, GABRB3
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| Effects on promoter activity of common SNPs in 5' region of GABRB3 exon 1A.
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| Tanaka M, Bailey JN, Bai D, Ishikawa-Brush Y, Delgado-Escueta AV, Olsen RW.
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| Epilepsia 53(8):1450-6. doi: 10.1111/j.1528-1167.2012.03572.x. Epub 2012 Jul 5.
2012
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| 13 | ECA5, GABRB3
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| GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating.
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| Gurba KN, Hernandez CC, Hu N, Macdonald RL.
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| J Biol Chem 287(15):12083-97. doi: 10.1074/jbc.M111.332528. Epub 2012 Feb 2.
2012
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| 14 | GABRA2, GABRB3
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| Expression of functional γ-aminobutyric acid type A receptors in Schwann-like adult stem cells.
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| Faroni A, Terenghi G, Magnaghi V.
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| J Mol Neurosci 47(3):619-30. doi: 10.1007/s12031-011-9698-9. Epub 2012 Jan 4.
2012
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| 15 | GABRB3
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| Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3.
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| DeLorey TM, Sahbaie P, Hashemi E, Li WW, Salehi A, Clark DJ.
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| Behav Brain Res 216(1):36-45. doi: 10.1016/j.bbr.2010.06.032. Epub 2010 Aug 10.
2011
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| 16 | GABRB3
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| Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.
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| Delahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH Jr, Macdonald RL, Sutcliffe JS.
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| Mol Psychiatry 16(1):86-96. doi: 10.1038/mp.2009.118. Epub 2009 Nov 24.
2011
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| 17 | DUP15QP, GABRB3, NDN, SNRPN, UBE3A
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| Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.
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| Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM.
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| J Med Genet 46(2):86-93. Epub 2008 Oct 7.
2009
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| 18 | DUP15QP, GABRB3
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| Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder.
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| DeLorey TM, Sahbaie P, Hashemi E, Homanics GE, Clark JD.
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| Behav Brain Res ehav Brain Res. 2008
2008
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| 19 | ECA5, GABRB3
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| Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
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| Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV.
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| Am J Hum Genet 82(6):1249-61. doi: 10.1016/j.ajhg.2008.04.020.
2008
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| 20 | AS, AUTS4, GABRB3, MECP2, PWS, RTT, UBE3A
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| 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
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| Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.
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| Hum Mol Genet 16(6):691-703. Epub 2007 Mar 5.
2007
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| 21 | GABRA5, GABRB3, GABRG3
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| 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
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| Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.
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| Hum Mol Genet 16(6):691-703.
2007
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| 22 | GABRB3
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| A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
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| Urak L, Feucht M, Fathi N, Hornik K, Fuchs K.
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| Hum Mol Genet 15(16):2533-41. Epub 2006 Jul 11. 2006
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| 23 | ECA5, GABRB3
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| A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
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| Urak L, Feucht M, Fathi N, Hornik K, Fuchs K.
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| Hum Mol Genet 15(16):2533-41. Epub 2006 Jul 11. Erratum in: Hum Mol Genet. 2006 Nov 1;15(21):3272.
2006
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| 24 | GABRA5, GABRB3, GABRG3
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| An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder.
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| Ashley-Koch AE, Mei H, Jaworski J, Ma DQ, Ritchie MD, Menold MM, Delong GR, Abramson RK, Wright HH, Hussman JP, Cuccaro ML, Gilbert JR, Martin ER, Pericak-Vance MA.
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| Ann Hum Genet 70(Pt 3):281-92.
2006
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| 25 | UBE3A, MECP2, GABRB3, RTT, AUTS4
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| Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.
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| Samaco RC, Hogart A, LaSalle JM.
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| Hum Mol Genet 14(4):483-92. Epub 2004 Dec 22. 2005
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| 26 | CALM1, CDK5R1, CFHR1, FGF13, GABRB3, HBB, MAP1B, MAP2, MAP2K4, RAB6A, RAP2A, SCN2B, SORT1, SYN2, VAMP1, YWHAZ, ZBTB18
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| Gene regulation and DNA damage in the ageing human brain.
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| Lu T, Pan Y, Kao SY, Li C, Kohane I, Chan J, Yankner BA.
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| Nature 429(6994):883-91. Epub 2004 Jun 09. 2004
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| 27 | POU5F1, FOXD3, DNMT3B, FZD7, SDC4, GABRB3, GPC4, TERF1
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| Gene expression patterns in human embryonic stem cells and human pluripotent germ cell tumors.
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| Sperger JM, Chen X, Draper JS, Antosiewicz JE, Chon CH, Jones SB, Brooks JD, Andrews PW, Brown PO, Thomson JA.
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| Proc Natl Acad Sci U S A 100(23):13350-5. Epub 2003 Oct 31. 2003
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| 28 | GABRB3
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| Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism.
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| Salmon B, et al.
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| Am J Med Genet 88(5):551-556 1999
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| 29 | AUTS4, GABRB3
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| Genetic studies in autistic disorder and chromosome 15.
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| Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER, maddox LO, Vance JM, Abramson RK, Wright HH, Gilbert JR, Cuccaro ML, De Long GR, Pericak-Vance MA.
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| Neurogenetics 2 : 219-226. 1999
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| 30 | GABRB3, GABRA5
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| Structure and organization of GABRB3 and GABRA5.
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| Glatt K, et al.
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| Genomics 41 : 63-69. 1997
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| 31 | GABRA5, GABRB3, GABRG3, EJM2
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| Linkage analysis between idiopathic generalized epilepsies and the GABA(A) receptor alpha5, beta3 and gamma3 subunit gene cluster on chromosome 15.
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| Sander T, Kretz R, Williamson MP, Elmslie FV, Rees M, Hildmann T, Bianchi A, Bauer G, Sailer U, Scaramelli A, Schmitz B, Gardiner RM, Janz D, Beck-Mannagetta G.
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| Acta Neurol Scand 96(1):1-7. 1997
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| 32 | GABRA5, GABRB3
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| Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution.
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| LaSalle JM, et al.
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| Nat Genet 9 : 386-394. 1995
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| 33 | GABRB3, GABRA5
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| The human gamma-aminobutyric acid receptor subunit beta3 and alpha5 gene cluster in chromosome 15q11-q13 is rich in highly polymorphic (CA)n repeats.
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| Glatt K, et al.
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| Genomics 19 : 157-160. 1994
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| 34 | AS,GABRB3
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| Exclusion of the GABAa-receptor beta3 subunit gene as the Angelman's syndrome gene.
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| Reis A, et al.
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| Lancet 341 : 122-123. 1993
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| 35 | AS,GABRB3
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| Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAa receptor beta3 subunit gene.
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| Saitoh S, et al.
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| Lancet 339 : 366-367. 1992
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| 36 | GABRB3
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| Dinucleotide repeat polymorphism at the GABAa receptor beta3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.
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| Mutirangura A, et al.
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| Hum Mol Genet 1 : 67. 1992
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| 37 | GABRB3
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| Localization of the gene encoding the GABAa receptor beta-3 subunit to the Angelman/Prader-Willi region of human chromosome 15.
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| Wagstaff J, et al.
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| Am J Hum Genet 49 : 330-337. 1991
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| 38 | GABRB3
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| The GABAa receptor beta3 subunit gene : characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7.
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| Wagstaff J, et al.
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| Genomics 11 : 1071-1078 1991
|