Associated Papers
Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.
Olguin SL et al.
Biorxiv : the Preprint Server for Biology, 2025
Functional evaluation of a rat model of KCNT1-related epilepsy.
Liu N et al.
Epilepsy Research, 2025
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 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
KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies.
Duan YZ et al.
Journal of Neurology, 2025
Durable suppression of seizures in a preclinical model of KCNT1 genetic epilepsy with divalent small interfering RNA.
Andreone BJ et al.
Epilepsia, 2025
Structure-Activity Relationship Studies in a Series of 2-Aryloxy-N-(pyrimidin-5-yl)acetamide Inhibitors of SLACK Potassium Channels.
Mishra NM et al.
Molecules (basel, Switzerland), 2024
Gene therapy for targeting a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death.
Golinski SR et al.
Biorxiv : the Preprint Server for Biology, 2024
iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.
Rylaarsdam L et al.
Nature Communications, 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
Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.
Hussein Y et al.
Translational Psychiatry, 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
Antisense oligonucleotide therapy for KCNT1 encephalopathy.
Burbano LE et al.
Jci Insight, 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
Modeling Epilepsy Using Human Induced Pluripotent Stem Cells-Derived Neuronal Cultures Carrying Mutations in Ion Channels and the Mechanistic Target of Rapamycin Pathway.
Weng OY et al.
Frontiers in Molecular Neuroscience, 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
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.
Turner TJ et al.
Journal of Neurochemistry, 2021
Personalized Medicine Using Cutting Edge Technologies for Genetic Epilepsies.
Garcia-Rosa S et al.
Current Neuropharmacology, 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
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 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
An Epilepsy-Associated KCNT1 Mutation Enhances Excitability of Human iPSC-Derived Neurons by Increasing Slack KNa Currents.
Quraishi IH et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
McTague A et al.
Neurology, 2018
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
Zhu X et al.
Plos Genetics, 2017
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
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
Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.
Dhindsa RS et al.
Current Neurology and Neuroscience Reports, 2015
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
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
Milligan CJ et al.
Annals of Neurology, 2014