A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
http://link.springer.com/article/10.1007/s13760-018-0895-y/fulltext.html
Reference9 articles.
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2. Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW (2007) Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 130:2484–2493
3. Sintas C, Carreno O, Fernandez-Castillo N, Corominas R, Vila-Pueyo M, Toma C et al (2017) Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia. Sci Rep 7:2514
4. Kinder S, Ossig C, Wienecke M, Beyer A, von der Hagen M, Storch A, Smitka M (2015) Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine. Eur J Paediatr Neurol 19:72–74
5. Hu Y, Jiang H, Wang Q, Xie Z, Pan S (2013) Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. PLoS One 8:e56362
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