Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.L962P
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KCNT1

NM_020822.3:p.L962P

Associated Papers

KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies.

Duan YZ et al.

Journal of Neurology, 2025

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

Bonardi CM et al.

Brain : a Journal of Neurology, 2021

Targeting KNa1.1 channels in KCNT1-associated epilepsy.

Cole BA et al.

Trends in Pharmacological Sciences, 2021

Efficacy of Anti-seizure Medications, Quinidine, and Ketogenic Diet Therapy for KCNT1-Related Epilepsy and Genotype-Efficacy Correlation Analysis.

Lin Z et al.

Frontiers in Neurology, 2021

The Functional Properties, Physiological Roles, Channelopathy and Pharmacological Characteristics of the Slack (KCNT1) Channel.

Zhang Q et al.

Advances in Experimental Medicine and Biology, 2021

KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.

Borlot F et al.

Epilepsia, 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."