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A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352(⁎))] Causing Episodic Ataxia Type 2

Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2) is the most common and also has the largest numbe...

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Detalles Bibliográficos
Autores principales:	Lance, Sean, Mossman, Stuart, Poke, Gemma
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866854/ https://www.ncbi.nlm.nih.gov/pubmed/29713557 http://dx.doi.org/10.1155/2018/5802650

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