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
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 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
Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy.
Shin HJ et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 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
Voltage-gated potassium channels and genetic epilepsy.
Zheng Y et al.
Frontiers in Neurology, 2024
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Ambrosino P 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
Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain.
Chi G et al.
Nature Communications, 2022
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists.
McTague A et al.
European Journal of Medical Genetics, 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
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
Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
Carpenter JC et al.
Epilepsia, 2021
Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
Kim SY et al.
Clinical Genetics, 2021
Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations.
Won D et al.
Frontiers in Neurology, 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