Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.L293H
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KCNA2

NM_004974.4:p.L293H

Associated Papers

Functional characterization and in vitro pharmacological rescue of a novel KCNA2 variant associated with developmental and epileptic encephalopathy.

Xie C et al.

Neuroscience, 2025

Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.

Xie C et al.

Molecular Neurobiology, 2024

Potassium channel-related epilepsy: Pathogenesis and clinical features.

Zhao T et al.

Epilepsia Open, 2024

A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.

Imbrici P et al.

International Journal of Molecular Sciences, 2021

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.

Hedrich UBS et al.

Science Translational Medicine, 2021

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

Döring JH et al.

International Journal of Molecular Sciences, 2021

Exploring K v 1.2 Channel Inactivation Through MD Simulations and Network Analysis.

Costa F et al.

Frontiers in Molecular Biosciences, 2021

Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.

Niday Z et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Masnada S et al.

Brain : a Journal of Neurology, 2017

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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."