Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ3
Variant:p.R230S
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KCNQ3

NM_004519.4:p.R230S

Associated Papers

Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.

Wu X et al.

Neuroscience Bulletin, 2025

Potassium channel-related epilepsy: Pathogenesis and clinical features.

Zhao T et al.

Epilepsia Open, 2024

Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.

Ye J et al.

Frontiers in Molecular Neuroscience, 2023

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.

Ehtesham N et al.

Archives of Iranian Medicine, 2022

37543906 (PubMed )
Supplement: aim-25-788-s002.xlsx › Table_S1.2

Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.

Nappi P et al.

Pflugers Archiv : European Journal of Physiology, 2020

Autism and developmental disability caused by KCNQ3 gain-of-function variants.

Sands TT et al.

Annals of Neurology, 2019

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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."