Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.I177N
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KCNA3

NM_002232.5:p.I177N

Associated Papers

Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature.

Lauxmann S et al.

Frontiers in Neurology, 2021

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.

D'Adamo MC et al.

International Journal of Molecular Sciences, 2020

New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

D'Adamo MC et al.

Frontiers in Cellular Neuroscience, 2015

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.

Imbrici P et al.

The European Journal of Neuroscience, 2006

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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."