Associated Papers
Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.
Olguin SL et al.
Biorxiv : the Preprint Server for Biology, 2025
A Case Report on the Use of Doxazosin to Improve Outcomes in a Patient With a KCNT1 Genetic Variation.
Petrecca A et al.
Journal of Child Neurology, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study.
Trivisano M et al.
Annals of Neurology, 2025
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
Carvedilol inhibits neuronal hyperexcitability caused by epilepsy-associated KCNT1 mutations.
Di C et al.
British Journal of Pharmacology, 2025
Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy.
Hussain R et al.
Scientific Reports, 2024
Coupling of Slack and NaV1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development.
Yuan T et al.
Elife, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.
Yang Y et al.
Frontiers in Neurology, 2024
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
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Krygier M et al.
Frontiers in Genetics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
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
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
Cherian C et al.
Journal of Neurology, 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
Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.
Shademan B et al.
Neuromolecular Medicine, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy.
Xie N et al.
Translational Neuroscience, 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
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel.
Mao X et al.
Frontiers in Cellular Neuroscience, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.
Barcia G et al.
Neurology. Genetics, 2019
Treatment Responsiveness in KCNT1-Related Epilepsy.
Fitzgerald MP et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 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
Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature.
Abdelnour E et al.
Seizure, 2018
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
McTague A et al.
Neurology, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
A targeted resequencing gene panel for focal epilepsy.
Hildebrand MS et al.
Neurology, 2016
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.
Lim CX et al.
Journal of Medical Genetics, 2016
Genetic models of focal epilepsies.
Boillot M et al.
Journal of Neuroscience Methods, 2016
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
Allen NM et al.
Epilepsia, 2016
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 2016
Mutations in KCNT1 cause a spectrum of focal epilepsies.
Møller RS et al.
Epilepsia, 2015
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Ohba C et al.
Epilepsia, 2015
Human slack potassium channel mutations increase positive cooperativity between individual channels.
Kim GE et al.
Cell Reports, 2014