Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.E893K
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KCNT1

NM_020822.3:p.E893K

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

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Cavirani B et al.

International Journal of Molecular Sciences, 2024

38279250 (PubMed )
Supplement: ijms-25-01248-s001.zip › Tab_supp_S1.xlsx › Foglio1

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

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

Rychkov GY et al.

International Journal of Molecular Sciences, 2022

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

Xu D et al.

British Journal of Clinical Pharmacology, 2022

Approaches for the discovery of drugs that target K Na 1.1 channels in KCNT1-associated epilepsy.

Miziak B et al.

Expert Opinion on Drug Discovery, 2022

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

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

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

Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Kessi M et al.

Frontiers in Genetics, 2020

Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.

Datta AN et al.

Journal of Child Neurology, 2019

Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review.

Jia Y et al.

Frontiers in Neurology, 2019

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.

Dilena R et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018

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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."