Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.T314A
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KCNT1

NM_020822.3:p.T314A

Associated Papers

Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.

Olguin SL et al.

Biorxiv : the Preprint Server for Biology, 2025

Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy.

Hussain R et al.

Scientific Reports, 2024

Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.

Rychkov GY et al.

International Journal of Molecular Sciences, 2022

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Bonardi CM et al.

Brain : a Journal of Neurology, 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."