Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.E236K
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KCNA2

NM_004974.4:p.E236K

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

Voltage-gated potassium channels and genetic epilepsy.

Zheng Y et al.

Frontiers in Neurology, 2024

Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.

Boßelmann CM et al.

Ebiomedicine, 2022

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

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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."