Associated Papers
KCNC1-Related Progressive Myoclonus Epilepsy: A Case Report.
Salari M et al.
Clinical Case Reports, 2025
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
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Ambrosino P et al.
Epilepsia, 2023
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
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
Loss of Function of KCNC1 is associated with intellectual disability without seizures.
Poirier K et al.
European Journal of Human Genetics : Ejhg, 2017
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