Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.R317H
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KCNC1

NM_001112741.2:p.R317H

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

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes.

Li X et al.

Annals of Translational Medicine, 2021

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.

Cameron JM et al.

Annals of Clinical and Translational Neurology, 2019

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M et al.

Nature Genetics, 2015

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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."