Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.V174A
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KCNA1

NM_000217.3:p.V174A

Associated Papers

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.

Paulhus K et al.

International Journal of Molecular Sciences, 2023

Interictal Headache, Pseudodystonia, and Persistent Ataxia in Episodic Ataxia Type 1 Due to a Novel KCNA1 Gene Mutation.

Bhattacharjee S et al.

Movement Disorders Clinical Practice, 2022

Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.

Hadjivassiliou M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."