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V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations

OBJECTIVE: Ataxia channelopathies share common features such as slow motor progression and variable degrees of cognitive dysfunction. Mutations in potassium voltage-gated channel subfamily D member 3 (KCND3), encoding the K+ channel, Kv4.3, are associated with spinocerebellar ataxia (SCA) 19, alleli...

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Detalles Bibliográficos
Autores principales:	Paucar, Martin, Ågren, Richard, Li, Tianyi, Lissmats, Simon, Bergendal, Åsa, Weinberg, Jan, Nilsson, Daniel, Savichetva, Irina, Sahlholm, Kristoffer, Nilsson, Johanna, Svenningsson, Per
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862093/ https://www.ncbi.nlm.nih.gov/pubmed/33575485 http://dx.doi.org/10.1212/NXG.0000000000000546

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