Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.V478M
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KCNA3

NM_002232.5:p.V478M

Associated Papers

A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.

Marchionni E et al.

Neurogenetics, 2026

De novo missense variants of KCNA3, KCNA4, and KCNA6 cause early onset developmental epileptic encephalopathy.

Tsai MH et al.

Human Molecular Genetics, 2025

De novo variants in KCNA3 cause developmental and epileptic encephalopathy.

Soldovieri MV et al.

Annals of Neurology, 2024

Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young.

Tang C et al.

Frontiers in Endocrinology, 2021

Newly Identified KCNA3 Gene Variants Put the "Excite"-ment Back in Kv1.3 Channelopathy.

Glasscock E

Epilepsy Currents, 0

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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."