Associated Papers
Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy.
Olguin SL et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic Epilepsies: Clinical pearls for early career epileptologists.
Andrade DM et al.
Epilepsy & Behavior : E&b, 2025
Successful Management of Cerebral Salt-Wasting Syndrome in a Child With Epileptic Encephalopathy: A Case Report.
Zhang R et al.
Clinical Case Reports, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies.
Duan YZ et al.
Journal of Neurology, 2025
Electrophysiological characterization of human KCNT1 channel modulators and the therapeutic potential of hydroquinine and tipepidine in KCNT1 mutation-associated epilepsy mouse model.
Guo Q et al.
Acta Pharmacologica Sinica, 2025
Carvedilol inhibits neuronal hyperexcitability caused by epilepsy-associated KCNT1 mutations.
Di C et al.
British Journal of Pharmacology, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K et al.
International Journal of Molecular Sciences, 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
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Odgis JA et al.
American Journal of Medical Genetics. Part A, 2023
Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.
Chen J et al.
Journal of Human Genetics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 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
Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants.
Ferretti A et al.
Pharmaceutics, 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
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
Rational Small Molecule Treatment for Genetic Epilepsies.
Goldberg EM
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 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
Personalized medicine in genetic epilepsies - possibilities, challenges, and new frontiers.
Helbig I et al.
Neuropharmacology, 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
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.
Barcia G et al.
Neurology. Genetics, 2019
Infantile refractory seizures due to de novo KCNT 1 mutation.
Alsaleem M et al.
Bmj Case Reports, 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
Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.
Gertler TS et al.
Annals of Clinical and Translational Neurology, 2019
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Elliott AM et al.
European Journal of Pediatrics, 2019
Treatment Responsiveness in KCNT1-Related Epilepsy.
Fitzgerald MP et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 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
Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review.
Jia Y et al.
Frontiers in Neurology, 2019
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.
Miao P et al.
Clinical Genetics, 2018
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.
Dilena R et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
Lack of response to quinidine in KCNT1-related neonatal epilepsy.
Numis AL et al.
Epilepsia, 2018
A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures.
Madaan P et al.
Brain & Development, 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
Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment.
Symonds JD et al.
Current Opinion in Neurology, 2017