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
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
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
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
Discovery of the First Orally Available, Selective KNa1.1 Inhibitor: In Vitro and In Vivo Activity of an Oxadiazole Series.
Griffin AM et al.
Acs Medicinal Chemistry Letters, 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
Structure-Based Identification and Characterization of Inhibitors of the Epilepsy-Associated KNa1.1 (KCNT1) Potassium Channel.
Cole BA et al.
Iscience, 2020
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.
Barcia G et al.
Neurology. Genetics, 2019
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.
Tsang MH et al.
Epilepsia Open, 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
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.
Rim JH et al.
Bmc Medical Genomics, 2018
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
McTague A et al.
Neurology, 2018