Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.F932S
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KCNT1

NM_020822.3:p.F932S

Associated Papers

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

Olguin SL et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Duan YZ et al.

Journal of Neurology, 2025

New use for an old drug: quinidine in KCNT1-related epilepsy therapy.

Liu R et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Precision therapy with quinidine of KCNT1-related epileptic disorders: A systematic review.

Xu D et al.

British Journal of Clinical Pharmacology, 2022

Precision medicine and therapies of the future.

Sisodiya SM

Epilepsia, 2021

Case Report of Novel Genetic Variant in KCNT1 Channel and Pharmacological Treatment With Quinidine. Precision Medicine in Refractory Epilepsy.

Kravetz MC et al.

Frontiers in Pharmacology, 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

Treatment Responsiveness in KCNT1-Related Epilepsy.

Fitzgerald MP et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2019

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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."