Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.M430I
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KCNC1

NM_001112741.2:p.M430I

Associated Papers

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

A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.

Ambrosino P et al.

Epilepsia, 2023

A KCNC1-related neurological disorder due to gain of Kv3.1 function.

Clatot J et al.

Annals of Clinical and Translational Neurology, 2023

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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."