Associated Papers
Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy.
Wengert ER et al.
Elife, 2026
A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.
Huang C et al.
Bmc Neurology, 2026
Structural insights into the function, dysfunction and modulation of Kv3 channels.
Covarrubias M et al.
Neuropharmacology, 2025
Establishing an induced pluripotent stem cell bank using urine cells from pediatric patients with neurogenetic diseases.
Thai HBD et al.
Clinical and Experimental Pediatrics, 2025
KCNC1-Related Progressive Myoclonus Epilepsy: A Case Report.
Salari M et al.
Clinical Case Reports, 2025
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks.
Cameron JM et al.
Annals of Clinical and Translational Neurology, 2025
Whole exome sequencing-based testing of adult epilepsy in a Polish population.
Mroczek M et al.
Neurologia I Neurochirurgia Polska, 2025
Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy.
Wengert ER et al.
Biorxiv : the Preprint Server for Biology, 2024
Oxidative stress-related cellular aging causes dysfunction of the Kv3.1/KCNC1 channel reverted by melatonin.
Spinelli S et al.
Aging Cell, 2024
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.
G S B Lima PL et al.
Bmc Neurology, 2024
Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy.
Feng H et al.
Cell Reports. Medicine, 2024
Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.
Faulkner IE et al.
Frontiers in Cellular Neuroscience, 2024
ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
Cameron JM et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Ambrosino P et al.
Epilepsia, 2023
Differential diagnosis of familial adult myoclonic epilepsy.
Baykan B et al.
Epilepsia, 2023
A KCNC1-related neurological disorder due to gain of Kv3.1 function.
Clatot J et al.
Annals of Clinical and Translational Neurology, 2023
Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature.
Sobstyl M et al.
Epilepsy & Behavior Reports, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain.
Chi G et al.
Nature Communications, 2022
Apo and ligand-bound high resolution Cryo-EM structures of the human Kv3.1 channel reveal a novel binding site for positive modulators.
Botte M et al.
Pnas Nexus, 2022
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK): a cause of progressive myoclonic epilepsy.
Mahale RR et al.
Acta Neurologica Belgica, 2022
Epilepsy Combined With Multiple Gene Heterozygous Mutation.
Qiuju H et al.
Frontiers in Pediatrics, 2022
Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.
Niu Y et al.
Frontiers in Neurology, 2022
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Canafoglia L et al.
Neurology. Genetics, 2021
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes.
Li X et al.
Annals of Translational Medicine, 2021
Gene Editing and Modulation: the Holy Grail for the Genetic Epilepsies?
Carpenter JC et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
Carpenter JC et al.
Epilepsia, 2021
Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
Rossi M et al.
Movement Disorders Clinical Practice, 2021
Utilising Automated Electrophysiological Platforms in Epilepsy Research.
Milligan CJ et al.
Methods in Molecular Biology (clifton, N.j.), 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature.
Barot N et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2020
Generation of induced pluripotent stem cell GZHMCi001-A and GZHMCi001-B derived from peripheral blood mononuclear cells of epileptic patients with KCNC1 mutation.
Nengqing L et al.
Stem Cell Research, 2020
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Cameron JM et al.
Annals of Clinical and Translational Neurology, 2019
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
Park J et al.
Annals of Clinical and Translational Neurology, 2019
Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.
Canafoglia L et al.
Seizure, 2019
Pharmacological rescue of mutated Kv3.1 ion-channel linked to progressive myoclonus epilepsies.
Munch AS et al.
European Journal of Pharmacology, 2018
Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.
Kim H et al.
Brain & Development, 2018
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Loss of Function of KCNC1 is associated with intellectual disability without seizures.
Poirier K et al.
European Journal of Human Genetics : Ejhg, 2017
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Oliver KL et al.
Annals of Neurology, 2017
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.
Nascimento FA et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Myoclonus, Epilepsy, and Ataxia Resulting From Potassium Channel Gene Mutation: Expanding the Spectrum Underlying Ramsay Hunt Syndrome.
Balint B et al.
Movement Disorders Clinical Practice, 2015
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M et al.
Nature Genetics, 2015
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015