Associated Papers
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
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
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 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 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.
Zhang Y et al.
Journal of Neurophysiology, 2021
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Cameron JM et al.
Annals of Clinical and Translational Neurology, 2019
Select a paper to view details