| 1 | EPM6A, GOSR2
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| Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy.
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| Jepson JEC, Praschberger R, Krishnakumar SS.
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| Neuroscience Nov 10;420:41-49. doi: 10.1016/j.neuroscience.2019.03.057. Epub 2019 Apr 4 2019
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| 2 | EPM6A, GOSR2, LGMD2S, TRAPPC11
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| TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
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| Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA.
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| Skelet Muscle. May 31;8(1):17. doi: 10.1186/s13395-018-0163-0. 2018
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| 3 | EPM6A, GOSR2
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| GOSR2: a progressive myoclonus epilepsy gene.
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| Dibbens LM, Rubboli G.
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| Epileptic Disord. Sep 1;18(S2):111-114. doi: 10.1684/epd.2016.0848 2016
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| 4 | EPM6A, GOSR2
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| Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
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| van Egmond ME, Verschuuren-Bemelmans CC, Nibbeling EA, Elting JW, Sival DA, Brouwer OF, de Vries JJ, Kremer HP, Sinke RJ, Tijssen MA, de Koning TJ.
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| Mov Disord. Jan;29(1):139-43. doi: 10.1002/mds.25704. Epub 2013 Oct 30. 2014
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| 5 | EPM6A, GOSR2
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| A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
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| Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF.
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| Am J Hum Genet 88(5):657-63. Epub 2011 May 5.
2011
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