Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I
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DOI: 10.3389/fneur.2018.00587
Abstract: 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… read more here.
Keywords: ataxia type; novo mutation; episodic ataxia; new novo ... See more keywords