Case report of novel CACNA1A gene mutation causing episodic ataxia type 2

BACKGROUND: Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with episodic ataxia type 2, although 30%–50% of a...

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Detalles Bibliográficos
Autores principales: Isaacs, David Alan, Bradshaw, Michael J, Brown, Kelly, Hedera, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431607/
https://www.ncbi.nlm.nih.gov/pubmed/28540055
http://dx.doi.org/10.1177/2050313X17706044

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