ArticleCell reports2020
Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy.
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Article in Cell reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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43citing papers in PubMed, 1 pooled it
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it.
- New use for an old drug: quinidine in KCNT1-related epilepsy therapy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Pooled it
- RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death.Nature communications · 2026Article
- Unraveling the mechanisms of slack channel mutations in epileptic disorders.Acta epileptologica · 2026Review
- Pentylenetetrazole kindling impairs place recognition memory associated with suppressing proBDNF-mediated neural information flows at the hippocampal CA3-CA1 synapses.Frontiers in pharmacology · 2026Article
- Oxysterol signaling in the central nervous system: cellular mechanisms and implications for neurodegeneration.Frontiers in molecular neuroscience · 2026Review
- Identification of New KCNT1-Epilepsy Drugs by In Silico, Cell, and Drosophila Modeling.Annals of neurology · 2025Article
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- Enhanced Distal Signaling in Human Hippocampal Neurons despite Lower Intrinsic Excitability.Research square · 2025Article
- Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.Bioscience reports · 2025Review
- Interictal network dysfunction and cognitive impairment in epilepsy.Nature reviews. Neuroscience · 2025Review
- KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies.Journal of neurology · 2025Review
- Electrophysiological characterization of human KCNT1 channel modulators and the therapeutic potential of hydroquinine and tipepidine in KCNT1 mutation-associated epilepsy mouse model.Acta pharmacologica Sinica · 2025Article
- Tonic-clonic seizures induce hypersomnia and suppress rapid eye movement sleep in mouse models of epilepsy.Sleep advances : a journal of the Sleep Research Society · 2025Article
- Structure-Activity Relationship Studies in a Series of 2-Aryloxy-Molecules (Basel, Switzerland) · 2024Article
- Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.Cells · 2024Review
- Heterozygous expression of aeLife · 2024Article
- Heterozygous expression of abioRxiv : the preprint server for biology · 2024Article
- Structure-Activity Relationship Studies in a Series of Xanthine Inhibitors of SLACK Potassium Channels.Molecules (Basel, Switzerland) · 2024Article
- Disease-causing Slack potassium channel mutations produce opposite effects on excitability of excitatory and inhibitory neurons.Cell reports · 2024Article
- Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy.Scientific reports · 2024Article
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Authors and funding
18 authors.
Amy N ShoreDepartment of Neurological Sciences, University of Vermont, Burlington, VT 05405, USA.
Sophie ColomboInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
William F TobinDepartment of Neurological Sciences, University of Vermont, Burlington, VT 05405, USA.
Sabrina PetriInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Erin R CullenDepartment of Neurological Sciences, University of Vermont, Burlington, VT 05405, USA.
Soledad DominguezInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Christopher D BostickInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Michael A BeaumontInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Axion BioSystems, Atlanta, GA 30309, USA.
Damian WilliamsInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Dion KhodagholyDepartment of Electrical Engineering, Columbia University, New York, NY 10032, USA.
Mu YangInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Cathleen M LutzThe Jackson Laboratory, Bar Harbor, ME 04609, USA.
Yueqing PengInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.
Jennifer N GelinasInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Neurology, Columbia University, New York, NY 10032, USA.
David B GoldsteinInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Genetics and Development, Columbia University, New York, NY 10032, USA.
Michael J BolandInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Genetics and Development, Columbia University, New York, NY 10032, USA.
Wayne N FrankelInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Neurology, Columbia University, New York, NY 10032, USA.
Matthew C WestonDepartment of Neurological Sciences, University of Vermont, Burlington, VT 05405, USA. Electronic address: mcweston@uvm.edu.
Funding
GENETIC DETERMINANTS OF EPILEPSY IN MURINE SYSTEMSR01NS031348 · NINDS · JACKSON LABORATORY · PI SANDS, TRISTAN T · 1993 to 2025
$11.5MThe Jackson Laboratory Center for Precision Genetics: From New Models to Novel TherapeuticsU54OD020351 · OD · JACKSON LABORATORY · PI FRANKEL, WAYNE N. · 2015 to 2019
$10.2MGenetic Determinants of Epilepsy in Murine SystemsR37NS031348 · NINDS · JACKSON LABORATORY · PI FRANKEL, WAYNE N. · 2014 to 2020
$5.8MSynaptic changes and hypersynchronous network activity in mTORopathiesR01NS110945 · NINDS · VIRGINIA POLYTECHNIC INST AND ST UNIV · PI WESTON, MATTHEW C · 2019 to 2023
$1.7MRegulation of synapse and network dynamics at MTORR00NS087095 · NINDS · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · PI WESTON, MATTHEW C · 2016 to 2018
$744kBasal forebrain cholinergic dysfunction in sleep-related epilepsyR21NS120027 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI PENG, YUEQING · 2020 to 2020
$446kREGULATION OF SYNAPSE AND NETWORK DYNAMICS BY MTORK99NS087095 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI WESTON, MATTHEW C · 2014 to 2015
$179kNIH HHS U54 OD020351NINDS NIH HHS K99 NS087095NINDS NIH HHS R00 NS087095NINDS NIH HHS R01 NS031348NINDS NIH HHS R01 NS110945NINDS NIH HHS R21 NS120027NINDS NIH HHS R37 NS031348
Abstract
Gain-of-function (GOF) variants in K
Indexed as
Action PotentialsAnimalsDisease Models, AnimalEpilepsyGABAergic NeuronsHumansMiceNerve Tissue ProteinsPotassium Channels, Sodium-ActivatedSeizuresKCNT1 protein, humanNerve Tissue ProteinsPotassium Channels, Sodium-ActivatedADNFLEcalcium imagingelectrocorticographyelectrophysiologyepilepsyKCNT1K(Na) currentMEASlacksynaptic transmission
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.