Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.G398C
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KCNA2

NM_004974.4:p.G398C

Associated Papers

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

De novo variants in KCNA3 cause developmental and epileptic encephalopathy.

Soldovieri MV et al.

Annals of Neurology, 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

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

Döring JH et al.

International Journal of Molecular Sciences, 2021

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

He N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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."