| 1 | SLC6A1, SLC6A11
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| 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
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| Dikow N, Maas B, Karch S, Granzow M, Janssen JW, Jauch A, Hinderhofer K, Sutter C, Schubert-Bast S, Anderlid BM, Dallapiccola B, Van der Aa N, Moog U.
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| Am J Med Genet A 164A(12):3061-8. doi: 10.1002/ajmg.a.36761. Epub 2014 Sep 24.
2014
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| 2 | SLC6A1, SLC6A11
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| Midbrain dopamine neurons sustain inhibitory transmission using plasma membrane uptake of GABA, not synthesis.
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| Tritsch NX, Oh WJ, Gu C, Sabatini BL.
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| Elife 3:e01936. doi: 10.7554/eLife.01936.
2014
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| 3 | ATXN8, ATXN8OS, MBNL1, SCA8, SLC6A11
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| RNA gain-of-function in spinocerebellar ataxia type 8.
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| Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, Swanson MS, Ranum LP.
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| PLoS Genet 5(8):e1000600. Epub 2009 Aug 14.PMID: 19680539 2009
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| 4 | SLC6A11
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| Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.
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| Inada T, Koga M, Ishiguro H, Horiuchi Y, Syu A, Yoshio T, Takahashi N, Ozaki N, Arinami T.
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| Pharmacogenet Genomics 18(4):317-23.PMID: 18334916 2008
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| 5 | SLC6A11
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| Mechanism of chloride interaction with neurotransmitter:sodium symporters.
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| Zomot E, Bendahan A, Quick M, Zhao Y, Javitch JA, Kanner BI.
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| Nature 449(7163):726-30. Epub 2007 Aug 19.PMID: 17704762 2007
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| 6 | SLC6A1, SLC6A11, SLC6A12, SLC6A13
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| Zinc inhibition of {gamma}-aminobutyric acid transporter 4 (GAT4) reveals a link between excitatory and inhibitory neurotransmission.
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| Cohen-Kfir E, Lee W, Eskandari S, Nelson N.
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| Proc Natl Acad Sci U S A 102(17):6154-9. Epub 2005 Apr 13. 2005
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| 7 | SLC6A11
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| Cloning of the human homologue of the GABA transporter GAT-3 and identificationof a novel inhibitor with selectivity for this site.
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| Borden LA, Dhar TG, Smith KE, Branchek TA, Gluchowski C, Weinshank RL.
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| Receptors Channels 2(3):207-13. 1994
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| 8 | SLC6A11, SLC6A13
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| Molecular heterogeneity of the gamma-aminobutyric acid (GABA) transport system Cloning of two novel high affinity GABA transporters from rat brain.
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| Borden LA, Smith KE, Hartig PR, Branchek TA, Weinshank RL.
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| J Biol Chem 267(29):21098-104. 1992
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