Varaico: Literature-Extracted Genetic Variants

Gene:KCNC2
Variant:p.C125Y
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KCNC2

NM_139137.4:p.C125Y

Associated Papers

Structural insights into the function, dysfunction and modulation of Kv3 channels.

Covarrubias M et al.

Neuropharmacology, 2025

A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction.

Clatot J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.

Faulkner IE et al.

Frontiers in Cellular Neuroscience, 2024

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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."