Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.M255_I258del0
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KCNA2

NM_004974.4:p.M255_I258del0

Associated Papers

Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy.

Kaki A et al.

Neurogenetics, 2025

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

Xie C et al.

Molecular Neurobiology, 2024

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

Döring JH et al.

International Journal of Molecular Sciences, 2021

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Garone G et al.

International Journal of Molecular Sciences, 2020

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

Masnada S et al.

Brain : a Journal of Neurology, 2017

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Corbett MA et al.

Neurology, 2016

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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."