Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the CACNA1A gene, encoding the α(1A) subunit of the P...

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Detalles Bibliográficos
Autores principales: Sintas, Cèlia, Carreño, Oriel, Fernàndez-Castillo, Noèlia, Corominas, Roser, Vila-Pueyo, Marta, Toma, Claudio, Cuenca-León, Ester, Barroeta, Isabel, Roig, Carles, Volpini, Víctor, Macaya, Alfons, Cormand, Bru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451382/
https://www.ncbi.nlm.nih.gov/pubmed/28566750
http://dx.doi.org/10.1038/s41598-017-02554-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451382/
https://www.ncbi.nlm.nih.gov/pubmed/28566750
http://dx.doi.org/10.1038/s41598-017-02554-x

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