Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.G336E
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KCNA1

NM_000217.3:p.G336E

Associated Papers

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.

Granath K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40326640 (PubMed )
Supplement: MDS-40-1851-s003.xlsx › Variants

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

Paulhus K et al.

International Journal of Molecular Sciences, 2023

Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.

Yuan H et al.

Molecular Genetics & Genomic Medicine, 2020

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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."