Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.C208Y
Back to variants list

KCNC1

NM_001112741.2:p.C208Y

Associated Papers

Potassium channel-related epilepsy: Pathogenesis and clinical features.

Zhao T et al.

Epilepsia Open, 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

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

Ambrosino P et al.

Epilepsia, 2023

Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain.

Chi G et al.

Nature Communications, 2022

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

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.

Park J et al.

Annals of Clinical and Translational Neurology, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."