Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.R86Q
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KCNA1

NM_000217.3:p.R86Q

Associated Papers

A positively charged residue at the Kv1.1 T1 interface is critical for voltage-dependent activation and gating kinetics.

Hasan SM et al.

American Journal of Physiology. Cell Physiology, 2024

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

Paulhus K et al.

International Journal of Molecular Sciences, 2023

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.

D'Adamo MC et al.

International Journal of Molecular Sciences, 2020

Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype.

Set KK et al.

Movement Disorders Clinical Practice, 0

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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."