Associated Papers
KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies.
Duan YZ et al.
Journal of Neurology, 2025
Electrophysiological characterization of human KCNT1 channel modulators and the therapeutic potential of hydroquinine and tipepidine in KCNT1 mutation-associated epilepsy mouse model.
Guo Q et al.
Acta Pharmacologica Sinica, 2025
Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties.
Hinckley CA et al.
Epilepsia, 2023
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
Targeting KNa1.1 channels in KCNT1-associated epilepsy.
Cole BA et al.
Trends in Pharmacological Sciences, 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
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.
Barcia G et al.
Neurology. Genetics, 2019
Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.
Datta AN et al.
Journal of Child 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
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
McTague A et al.
Neurology, 2018
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 2016
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