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

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 of an...

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Bibliographic Details
Main Authors: Zeynep S. Karalok, Alfredo Megaro, Marta Cenciarini, Alev Guven, Sonia M. Hasan, Birce D. Taskin, Paola Imbrici, Serdar Ceylaner, Mauro Pessia, Maria C. D'Adamo
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-07-01
Series:Frontiers in Neurology
Subjects:
episodic ataxia type 1(EA1)
KCNA1
G311D
myokymia
diplopia
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2018.00587/full

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