| 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 | SLC6A5, STHE3
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| Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
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| Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ.
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| J Biol Chem 287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14.
2012
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| 3 | SLC6A5, STHE3
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| A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
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| Giménez C, Pérez-Siles G, Martínez-Villarreal J, Arribas-González E, Jiménez E, Núñez E, de Juan-Sanz J, Fernández-Sánchez E, García-Tardón N, Ibáñez I, Romanelli V, Nevado J, James VM, Topf M, Chung SK, Thomas RH, Desviat LR, Aragón C, Zafra F, Rees MI, Lapunzina P, Harvey RJ, López-Corcuera B.
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| J Biol Chem 287(34):28986-9002. doi: 10.1074/jbc.M111.319244. Epub 2012 Jun 29.
2012
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| 4 | 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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| 5 | SLC6A5, STHE3
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| Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
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| Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ.
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| Nat Genet 38(7):801-806. Epub 2006 Jun 4. 2006
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| 6 | GLYT2, STHE3
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| Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
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| Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H.
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| Biochem Biophys Res Commun 348(2):400-5. Epub 2006 Jul 26. 2006
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