Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I

Episodic ataxia type 1 (EA1), a Shaker-like K(+) channelopathy, is a consequence of genetic anomalies in the KCNA1 gene that lead to dysfunctions in the voltage-gated K(+) channel Kv1. 1. Generally, KCNA1 mutations are inherited in an autosomal dominant manner. Here we report the clinical phenotype...

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Detalles Bibliográficos
Autores principales: Karalok, Zeynep S., Megaro, Alfredo, Cenciarini, Marta, Guven, Alev, Hasan, Sonia M., Taskin, Birce D., Imbrici, Paola, Ceylaner, Serdar, Pessia, Mauro, D'Adamo, Maria C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094999/
https://www.ncbi.nlm.nih.gov/pubmed/30140249
http://dx.doi.org/10.3389/fneur.2018.00587

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