Associated Papers
Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.
Olguin SL et al.
Biorxiv : the Preprint Server for Biology, 2025
KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies.
Duan YZ et al.
Journal of Neurology, 2025
Carvedilol inhibits neuronal hyperexcitability caused by epilepsy-associated KCNT1 mutations.
Di C et al.
British Journal of Pharmacology, 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
In Silico Assisted Identification, Synthesis, and In Vitro Pharmacological Characterization of Potent and Selective Blockers of the Epilepsy-Associated KCNT1 Channel.
Iraci N et al.
Journal of Medicinal Chemistry, 2024
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.
Luiza Benevides M et al.
Epilepsy & Behavior : E&b, 2024
Structure-Activity Relationship Studies in a Series of Xanthine Inhibitors of SLACK Potassium Channels.
Qunies AM et al.
Molecules (basel, Switzerland), 2024
Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.
Yang Y et al.
Frontiers in Neurology, 2024
Design, synthesis, and biological evaluation of a novel series of 1,2,4-oxadiazole inhibitors of SLACK potassium channels: Identification of in vitro tool VU0935685.
Qunies AM et al.
Bioorganic & Medicinal Chemistry, 2023
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
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
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
Structure-activity relationship studies in a new series of 2-amino-N-phenylacetamide inhibitors of Slack potassium channels.
Qunies AM et al.
Bioorganic & Medicinal Chemistry Letters, 2022
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Gozzelino L et al.
Brain : a Journal of Neurology, 2022
Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.
Luo X et al.
Stem Cell Research, 2022
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM et al.
Brain : a Journal of Neurology, 2021
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.
Morgan A et al.
Biomedicines, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 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
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.
Marakhonov AV et al.
Clinical Genetics, 2021
Efficacy of Anti-seizure Medications, Quinidine, and Ketogenic Diet Therapy for KCNT1-Related Epilepsy and Genotype-Efficacy Correlation Analysis.
Lin Z et al.
Frontiers in Neurology, 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
VU0606170, a Selective Slack Channels Inhibitor, Decreases Calcium Oscillations in Cultured Cortical Neurons.
Spitznagel BD et al.
Acs Chemical Neuroscience, 2020
[Atypical presentation of early childhood epileptic encephalopathy associated with the gene KCNT1].
Moreno-Sánchez A et al.
Revista De Neurologia, 2020
KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.
Borlot F et al.
Epilepsia, 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
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
Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.
Datta AN et al.
Journal of Child Neurology, 2019
Treatment Responsiveness in KCNT1-Related Epilepsy.
Fitzgerald MP et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2019
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M et al.
Seizure, 2019
Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.
Yoshitomi S et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2019
Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.
Rubboli G et al.
Annals of Clinical and Translational Neurology, 2019
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.
Miao P et al.
Clinical Genetics, 2018
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.
Rim JH et al.
Bmc Medical Genomics, 2018
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
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.
Zhang Q et al.
Clinical Genetics, 2017
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Martínez F et al.
Journal of Medical Genetics, 2017
Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy.
Mori T et al.
Brain & Development, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 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