| 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 | 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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