Associated Papers
KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies.
Duan YZ et al.
Journal of Neurology, 2025
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
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
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists.
McTague A et al.
European Journal of Medical Genetics, 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
A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy.
Xie N et al.
Translational Neuroscience, 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
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Kuchenbuch M et al.
Brain : a Journal of Neurology, 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 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
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 2016
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Ohba C et al.
Epilepsia, 2015
The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy.
Becchetti A et al.
Frontiers in Physiology, 2015
Human slack potassium channel mutations increase positive cooperativity between individual channels.
Kim GE et al.
Cell Reports, 2014
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
Milligan CJ et al.
Annals of Neurology, 2014
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
Heron SE et al.
Nature Genetics, 2012