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Functional evaluation of epilepsy‐associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/ana.24128openalex-snapshot

KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine

inferredcites →https://doi.org/10.1002/ana.25438openalex-snapshot

SCN1A gain of function in early infantile encephalopathy

inferredcites →https://doi.org/10.1002/humu.23943openalex-snapshot

SCN1A variants from bench to bedside—improved clinical prediction from functional characterization

inferredcites →https://doi.org/10.1007/s002329900532openalex-snapshot

Endogenous Ion Channels in Oocytes of Xenopus laevis: Recent Developments

inferredcites →https://doi.org/10.1016/j.cell.2016.12.030openalex-snapshot

Structural Titration of Slo2.2, a Na + -Dependent K + Channel

inferredcites →https://doi.org/10.1016/j.celrep.2014.11.015openalex-snapshot

Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

inferredcites →https://doi.org/10.1016/j.celrep.2015.12.019openalex-snapshot

Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms

inferredcites →https://doi.org/10.1016/j.celrep.2016.07.024openalex-snapshot

Stimulation of Slack K+ Channels Alters Mass at the Plasma Membrane by Triggering Dissociation of a Phosphatase-Regulatory Complex

inferredcites →https://doi.org/10.1016/j.celrep.2020.108303openalex-snapshot

Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy

inferredcites →https://doi.org/10.1016/j.ebiom.2022.104130openalex-snapshot

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

inferredcites →https://doi.org/10.1016/j.mcn.2016.01.004openalex-snapshot

Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy

inferredcites →https://doi.org/10.1016/j.neuroscience.2017.03.035openalex-snapshot

The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype

inferredcites →https://doi.org/10.1021/acsmedchemlett.0c00675openalex-snapshot

Discovery of the First Orally Available, Selective KNa1.1 Inhibitor: In Vitro and In Vivo Activity of an Oxadiazole Series

inferredcites →https://doi.org/10.1038/ng.2440openalex-snapshot

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

inferredcites →https://doi.org/10.1038/ng.2441openalex-snapshot

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

inferredcites →https://doi.org/10.1038/nn.2563openalex-snapshot

Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack

inferredcites →https://doi.org/10.1093/brain/awab219openalex-snapshot

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

inferredcites →https://doi.org/10.1172/jci.insight.146090openalex-snapshot

Antisense oligonucleotide therapy for KCNT1 encephalopathy

inferredcites →https://doi.org/10.1172/jci.insight.156314openalex-snapshot

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

inferredcites →https://doi.org/10.1212/wnl.0000000000004762openalex-snapshot

Clinical and molecular characterization of KCNT1 -related severe early-onset epilepsy

inferredcites →https://doi.org/10.1212/wnl.0000000000201469openalex-snapshot

Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes

inferredcites →https://doi.org/10.1523/jneurosci.1628-18.2019openalex-snapshot

An Epilepsy-Associated KCNT1 Mutation Enhances Excitability of Human iPSC-Derived Neurons by Increasing Slack KNa Currents

inferredcites →https://doi.org/10.1523/jneurosci.2162-12.2012openalex-snapshot

Regulation of Neuronal Excitability by Interaction of Fragile X Mental Retardation Protein with Slack Potassium Channels

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.4809639openalex-extracted

Functional Evaluation of a Kcnt1 Variant Associated with Epilepsy in Rat

inferred← citeshttps://doi.org/10.1002/epi4.12975openalex-snapshot

Efficacy of anti‐seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1‐related epilepsy: A systematic review

inferred← citeshttps://doi.org/10.1007/s00415-025-13207-9openalex-snapshot

KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies

inferred← citeshttps://doi.org/10.1016/j.eplepsyres.2025.107589openalex-snapshot

Functional evaluation of a rat model of KCNT1-related epilepsy

inferred← citeshttps://doi.org/10.1021/acs.jmedchem.4c00268openalex-snapshot

In Silico Assisted Identification, Synthesis, and In Vitro Pharmacological Characterization of Potent and Selective Blockers of the Epilepsy-Associated KCNT1 Channel

inferred← citeshttps://doi.org/10.1055/a-2731-5130openalex-snapshot

Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood Epilepsies

inferred← citeshttps://doi.org/10.1093/braincomms/fcag256openalex-snapshot

Expanding the phenotypic and genotypic spectrum of KCNT1 -related epilepsies

inferred← citeshttps://doi.org/10.1101/2025.07.22.666003openalex-snapshot

Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy

inferred← citeshttps://doi.org/10.1111/epi.18278openalex-snapshot

Durable suppression of seizures in a preclinical model of KCNT1 genetic epilepsy with divalent small interfering RNA

inferred← citeshttps://doi.org/10.3389/fneur.2024.1416648openalex-snapshot

Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update

inferred← citeshttps://doi.org/10.3389/fneur.2025.1586947openalex-snapshot

Developmental mechanisms underlying pediatric epilepsy

inferred← citeshttps://doi.org/10.3390/children12040481openalex-snapshot

Precision Therapeutics in Lennox–Gastaut Syndrome: Targeting Molecular Pathophysiology in a Developmental and Epileptic Encephalopathy

inferred← citeshttps://doi.org/10.3390/molecules29122940openalex-snapshot

KCNT1 Channel Blockers: A Medicinal Chemistry Perspective

inferred← citeshttps://doi.org/10.4103/nrr.nrr-d-24-00877openalex-snapshot

Investigation of epilepsy-related genes in a Drosophila model

inferred← citeshttps://doi.org/10.7554/elife.92915openalex-snapshot

Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on somatostatin- and parvalbumin-expressing cortical GABAergic neurons

inferred← citeshttps://doi.org/10.7554/elife.92915.1openalex-snapshot

Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons

inferred← citeshttps://doi.org/10.7554/elife.92915.2openalex-snapshot

Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons

inferred← citeshttps://doi.org/10.7554/elife.92915.2.sa1openalex-snapshot

Reviewer #3 (Public Review): Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons

inferred← citeshttps://doi.org/10.7554/elife.92915.2.sa2openalex-snapshot

Reviewer #2 (Public Review): Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons

inferred← citeshttps://doi.org/10.7554/elife.92915.2.sa3openalex-snapshot

Reviewer #1 (Public Review): Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons

inferred← citeshttps://doi.org/10.7554/elife.92915.3openalex-snapshot

Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on SST- and PV-expressing cortical GABAergic neurons

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