Varaico: Literature-Extracted Genetic Variants

Gene:KCNT2
Variant:p.N182I
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KCNT2

NM_198503.5:p.N182I

Associated Papers

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review.

Cui F et al.

Frontiers in Genetics, 2024

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Cioclu MC et al.

Annals of Neurology, 2023

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.

Jackson A et al.

American Journal of Medical Genetics. Part A, 2021

Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy.

Gong P et al.

Frontiers in Genetics, 2021

New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.

Alagoz M et al.

Acta Biochimica Polonica, 2020

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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."