1 | EIEE78, GABRA2
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| Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
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| Maljevic S, Keren B, Aung YH, Forster IC, Mignot C, Buratti J, Lafitte A, Freihuber C, Rodan LH, Bergin A, Hubert L, Poirier K, Munnich A, Besmond C, Hauser N, Miller R, McWalter K, Nabbout R, Héron D, Leguern E, Depienne C, Petrou S, Nava C.
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| Brain May 1;142(5):e15. doi: 10.1093/brain/awz079 2019
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2 | EIEE78, EIEE79, GABRA2, GABRA5
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| De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy
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| Butler KM, Moody OA, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A.
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| Brain Aug 1;141(8):2392-2405. doi: 10.1093/brain/awy171. 2018
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3 | EIEE78, GABRA2
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| A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder
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| Orenstein N, Goldberg-Stern H, Straussberg R, Bazak L, Weisz Hubshman M, Kropach N, Gilad O, Scheuerman O, Dory Y, Kraus D, Tzur S, Magal N, Kilim Y, Shkalim Zemer V, Basel-Salmon L.
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| Eur J Paediatr Neurol. May;22(3):516-524. doi: 10.1016/j.ejpn.2017.12.017. Epub 2017 Dec 30 2018
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4 | GABRA2, PGR
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| PR-independent neurosteroid regulation of α2-GABA-A receptors in the hippocampus subfields.
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| Reddy DS, Gangisetty O, Wu X.
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| Brain Res. Mar 15;1659:142-147. doi: 10.1016/j.brainres.2017.01.030. Epub 2017 Jan 28 2017
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5 | GABRA2
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| Association of GABAA receptor α2 subunit gene (GABRA2) with alcohol dependence-related aggressive behavior.
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| Strac DS, Erjavec GN, Perkovic MN, Sviglin KN, Borovecki F, Pivac N.
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| Prog Neuropsychopharmacol Biol Psychiatry. Dec 3;63:119-25. doi: 10.1016/j.pnpbp.2015.06.010. Epub 2015 Jun 24 2015
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6 | GABRA1, GABRA2, NPTN
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| The cell adhesion molecule neuroplastin-65 is a novel interaction partner of γ-aminobutyric acid type A receptors.
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| Sarto-Jackson I, Milenkovic I, Smalla KH, Gundelfinger ED, Kaehne T, Herrera-Molina R, Thomas S, Kiebler MA, Sieghart W.
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| J Biol Chem 287(17):14201-14. doi: 10.1074/jbc.M111.293175. Epub 2012 Mar 2.
2012
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7 | 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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8 | GABRA2
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| Antidepressant-like properties of α2-containing GABA(A) receptors.
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| Vollenweider I, Smith KS, Keist R, Rudolph U.
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| Behav Brain Res 217(1):77-80. doi: 10.1016/j.bbr.2010.10.009. Epub 2010 Oct 20.
2011
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9 | GABRA2
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| Role of GABRA2 in moderating subjective responses to alcohol.
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| Roh S, Matsushita S, Hara S, Maesato H, Matsui T, Suzuki G, Miyakawa T, Ramchandani VA, Li TK, Higuchi S.
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| Alcohol Clin Exp Res 35(3):400-7. doi: 10.1111/j.1530-0277.2010.01357.x. Epub 2010 Nov 30.
2011
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10 | GABRA2
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| Association study between GABA receptor genes and anxiety spectrum disorders.
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| Pham X, Sun C, Chen X, van den Oord EJ, Neale MC, Kendler KS, Hettema JM.
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| Depress Anxiety 26(11):998-1003. doi: 10.1002/da.20628.
2009
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11 | GABRA2
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| Association of GABRA2 with drug dependence in the collaborative study of the genetics of alcoholism sample.
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| Agrawal A, Edenberg HJ, Foroud T, Bierut LJ, Dunne G, Hinrichs AL, Nurnberger JI, Crowe R, Kuperman S, Schuckit MA, Begleiter H, Porjesz B, Dick DM.
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| Behav Genet 36(5):640-50.
2006
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12 | GABRA2
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| Alternative splicing and promoter use in the human GABRA2 gene.
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| Tian H, Chen HJ, Cross TH, Edenberg HJ.
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| Brain Res Mol Brain Res 137(1-2):174-83. Epub 2005 Apr 8.
2005
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13 | GABRA2
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| Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations.
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| Edenberg HJ, Dick DM, Xuei X, Tian H, Almasy L, Bauer LO, Crowe RR, Goate A, Hesselbrock V, Jones K, Kwon J, Li TK, Nurnberger JI Jr, O'Connor SJ, Reich T, Rice J, Schuckit MA, Porjesz B, Foroud T, Begleiter H.
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| Am J Hum Genet 74(4):705-14. Epub 2004 Mar 12. 2004
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14 | GABRA1, GABRA2, GABRB1
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| Localization of human GABA-A receptor subunit genes to chromosomes 4 and 5.
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| Buckle VJ, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 972. 1989
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15 | GABRA2
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| Structural and functional basis for GABA-A receptor heterogeneity.
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| Levitan ES, et al.
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| Nature 335 : 76-79. 1988
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