Literature DB >> 28431595

Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2.

Štefan Sivák1, Egon Kurča2, Adriána Krajčiová3, Martina Hikkelová4, Juraj Šimko5, Nadežda Mišovicová6, Ema Kantorová7, Monika Turčanová-Koprušáková8, Tatiana Burjanivová9, Daniel Čierny10, Vladimír Nosál'11.   

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Year:  2017        PMID: 28431595     DOI: 10.1016/j.jns.2017.03.008

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


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  1 in total

1.  A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352)] Causing Episodic Ataxia Type 2.

Authors:  Sean Lance; Stuart Mossman; Gemma Poke
Journal:  Case Rep Neurol Med       Date:  2018-03-11
  1 in total

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