Associated Papers
A real-world comparison between the diagnostic yield of trio-whole exome sequencing and proband-only targeted exome sequencing in complex childhood epilepsy.
Fasaludeen A et al.
Seizure, 2025
KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies.
Duan YZ et al.
Journal of Neurology, 2025
Insights from stereoelectroencephalography in KCNT1-related focal epilepsy suggest a multifocal and migrating epileptogenic network.
Gokce-Samar Z et al.
Epilepsia, 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
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 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
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
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
Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1.1) Na+-activated K+ channels.
Quraishi IH et al.
Scientific Reports, 2020
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.
Cataldi M et al.
Seizure, 2019
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
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.
Lim CX et al.
Journal of Medical Genetics, 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
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC et al.
Nature Genetics, 2015
Human slack potassium channel mutations increase positive cooperativity between individual channels.
Kim GE et al.
Cell Reports, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin HC et al.
Human Molecular Genetics, 2014