Varaico: Literature-Extracted Genetic Variants

Gene:KCNV2
Variant:p.M285R
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KCNV2

NM_133497.4:p.M285R

Associated Papers

Association of Voltage-Gated Potassium Channel Polymorphisms with the Risk and Prognosis of Epilepsy in the Saudi Population: A Case-Control Study.

Alghamdi MA et al.

Medicina (kaunas, Lithuania), 2025

Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele.

de Guimaraes TAC et al.

Ophthalmic Genetics, 2024

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

The Impact of Potassium Channel Gene Polymorphisms on Antiepileptic Drug Responsiveness in Arab Patients with Epilepsy.

Al-Eitan LN et al.

Journal of Personalized Medicine, 2018

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

Pharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy.

Qu J et al.

Medicine, 2017

Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.

Villa C et al.

Frontiers in Cellular Neuroscience, 2016

Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.

Miceli F et al.

Frontiers in Cellular Neuroscience, 2015

K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.

D'Adamo MC et al.

Frontiers in Cellular Neuroscience, 2013

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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."