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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I publikationen:Sci Rep
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2017
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5451382/
https://ncbi.nlm.nih.gov/pubmed/28566750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-02554-x
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