1 | 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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2 | EIEE45, GABRB1
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| A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
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| Lien E, Våtevik AK, Østern R, Haukanes BI, Houge G.
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| Ann Neurol 80(2):311-2. doi: 10.1002/ana.24699. No abstract available.
2016
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3 | GABRB1
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| The effect of folic acid on GABA(A)-B 1 receptor subunit.
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| Vasquez K, Kuizon S, Junaid M, Idrissi AE.
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| Adv Exp Med Biol 775:101-9. doi: 10.1007/978-1-4614-6130-2_8.
2013
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4 | GABRB1, KCNJ6
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| GABAB-GIRK2-mediated signaling in Down syndrome.
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| Cramer NP, Best TK, Stoffel M, Siarey RJ, Galdzicki Z.
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| Adv Pharmacol 58:397-426. doi: 10.1016/S1054-3589(10)58015-3. Review.
2010
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5 | GABRB1
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| GABAA receptor subunit beta1 is involved in the formation of protease-resistant prion protein in prion-infected neuroblastoma cells.
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| Kimura T, Ishikawa K, Sakasegawa Y, Teruya K, Sata T, Schätzl H, Doh-ura K.
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| FEBS Lett 584(6):1193-8. doi: 10.1016/j.febslet.2010.02.029.
2010
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6 | GABRB1
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| Multiple modes for conferring surface expression of homomeric beta1 GABAA receptors.
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| Bracamontes JR, Steinbach JH.
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| J Biol Chem 283(38):26128-36. doi: 10.1074/jbc.M801292200.
2008
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7 | GABRB1
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| Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.
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| Collins AL, Ma D, Whitehead PL, Martin ER, Wright HH, Abramson RK, Hussman JP, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA.
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| Neurogenetics 7(3):167-74.
2006
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8 | GABRB1, GABRB2
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| Prenatal alteration and distribution of the GABA(B1) and GABA(B2) receptor subunit mRNAs during rat central nervous system development.
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| Li S, Park MS, Kim MO.
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| Brain Res Dev Brain Res 150(2):141-50.
2004
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9 | GABRB1
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| GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.
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| Gambardella A, Manna I, Labate A, Chifari R, La Russa A, Serra P, Cittadella R, Bonavita S, Andreoli V, LePiane E, Sasanelli F, Di Costanzo A, Zappia M, Tedeschi G, Aguglia U, Quattrone A.
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| Neurology 60(4):560-3.
2003
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10 | GABRB1, MAFD6
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| A study of genetic association between manic-depressive Illness and a highly polymorphic marker from the GABRbeta-1 gene.
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| Puertollano R, Visedo G, Zapata C, Fernandez-Piqueras J.
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| Am J Med Genet 74(3):342-4. 1997
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11 | GABRB1
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| Genotype-to-phenotype analysis : search for clinical characteristics of a missense change in the GABA A-beta1 receptor gene.
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| Sobell JL, et al.
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| Am J Med Genet 67 : 81-84. 1996
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12 | GABRB1
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| Search for mutations in the beta1 GABA A receptor subunit gene in patients with schizophrenia.
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| Coon H, et al.
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| Am J Med Genet 54 : 12-20. 1994
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13 | GABRB1
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| Isolation, characterization, and localization of human genomic DNA encoding the beta-1 subunit of the GABAa receptor (GABRB1).
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| Kirkness EF, et al.
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| Genomics 10 : 985-995. 1991
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14 | GABRB1, FCGR3B, CD247, DRD2, CD4, IGF1R
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| Genetic mapping of six human genes.
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| Dean M, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1853. 1991
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15 | GABRB1
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| Genetic mapping of the beta-1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism.
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| Dean M, et al.
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| Am J Hum Genet 49 : 621-626. 1991
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16 | GABRB1
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| Dinucleotide repeat polymorphism at the human beta-1 subunit of the GABAa receptor gene (GABRB1).
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| Polymeropoulos MH, et al.
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| Nucleic Acids Res 19 : 6345. 1991
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17 | GABRB1
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| A tetranucleotide repeat polymorphism at the human beta1 GABA receptor gene and mapping of the gene to near the centromere of chromosome 4.
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| Goldman D, et al.
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| Am J Hum Genet 49S : 340. 1991
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18 | 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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