| 1 | GLRA1, GLRB, SLC6A5, STHE1, STHE3, STHE4
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| Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
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| Thomas RH, Chung SK, Wood SE, Cushion TD, Drew CJ, Hammond CL, Vanbellinghen JF, Mullins JG, Rees MI.
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| Brain 136(Pt 10):3085-95. doi: 10.1093/brain/awt207. Epub 2013 Sep 11.
2013
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| 2 | GLRB, STHE4
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| Novel mutation in GLRB in a large family with hereditary hyperekplexia.
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| Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, Aldhalaan H, Rahbeeni Z, Al-Sayed M, Al-Younes B, Ozand PT, Kaya N.
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| Clin Genet 81(5):479-84. doi: 10.1111/j.1399-0004.2011.01661.x. Epub 2011 Apr 7.
2012
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| 3 | GLRB, GPHN, NBEA, VPS35
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| The trafficking proteins Vacuolar Protein Sorting 35 and Neurobeachin interact with the glycine receptor β-subunit.
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| del Pino I, Paarmann I, Karas M, Kilimann MW, Betz H.
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| Biochem Biophys Res Commun 412(3):435-40. Epub 2011 Jul 29.
2011
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| 4 | GLRB
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| Regulation of glycine receptor diffusion properties and gephyrin interactions by protein kinase C.
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| Specht CG, Grünewald N, Pascual O, Rostgaard N, Schwarz G, Triller A.
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| EMBO J 30(18):3842-53. doi: 10.1038/emboj.2011.276.
2011
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| 5 | GLRA1, GLRB, GPHN, SLC6A5, STHE1, STHE2, STHE3, STHE4
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| The genetics of hyperekplexia: more than startle!
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| Harvey RJ, Topf M, Harvey K, Rees MI.
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| Trends Genet 24(9):439-47. Epub 2008 Aug 15.
2008
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| 6 | GLRB
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| A novel glycine receptor beta subunit splice variant predicts an unorthodox transmembrane topology. Assembly into heteromeric receptor complexes.
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| Oertel J, Villmann C, Kettenmann H, Kirchhoff F, Becker CM.
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| J Biol Chem 282(5):2798-807. Epub 2006 Dec 4.
2007
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| 7 | GLRB
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| The beta subunit determines the ligand binding properties of synaptic glycine receptors.
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| Grudzinska J, Schemm R, Haeger S, Nicke A, Schmalzing G, Betz H, Laube B.
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| Neuron 45(5):727-39. 2005
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| 8 | GLRB
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| Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).
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| Rees MI, Lewis TM, Kwok JB, Mortier GR, Govaert P, Snell RG, Schofield PR, Owen MJ.
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| Hum Mol Genet 11(7):853-60. 2002
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| 9 | GLRB
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| Exonic Sp1 sites are required for neural-specific expression of the glycine receptor beta subunit gene.
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| Tintrup H, Fischer M, Betz H, Kuhse J.
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| Biochem J 355(Pt 1):179-87. 2001
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| 10 | GLRB
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| The human glycine receptor beta subunit gene (GLRB) : structure, refined chromosomal localization, and population polymorphism.
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| Milani N, et al.
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| Genomics 50 : 341-345. 1998
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| 11 | GLRB
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| The human glycine receptor beta subunit : primary structure, functional characterisation and chromosomal localisation of the human and murine genes.
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| Handford CA, et al.
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| Brain Res Mol Brain Res 35 : 211-219. 1996
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