Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo, and episodes of ataxia lasting minutes to hours. EA2 is caused most often by loss of function mutations of the calcium channel gene CACNA1A. In additio...

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Detalles Bibliográficos
Autores principales: Maksemous, Neven, Roy, Bishakha, Smith, Robert A., Griffiths, Lyn R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799871/
https://www.ncbi.nlm.nih.gov/pubmed/27066515
http://dx.doi.org/10.1002/mgg3.196

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799871/
https://www.ncbi.nlm.nih.gov/pubmed/27066515
http://dx.doi.org/10.1002/mgg3.196

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