Associated Papers
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L et al.
International Journal of Molecular Sciences, 2024
A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction.
Clatot J et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Case Report: Targeted treatment by fluoxetine/norfluoxetine of a KCNC2 variant causing developmental and epileptic encephalopathy.
Li P et al.
Frontiers in Pharmacology, 2024
Novel KCNC2 variant associated with developmental and epileptic encephalopathy.
Huo L et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants.
Mukherjee S et al.
Hgg Advances, 2022
Investigation of novel de novo KCNC2 variants causing severe developmental and early-onset epileptic encephalopathy.
Li L et al.
Seizure, 2022
Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing.
Mehinovic E et al.
American Journal of Medical Genetics. Part A, 2022
Emerging evidence of genotype-phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G.
Wang S et al.
Frontiers in Molecular Neuroscience, 2022
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.
Rydzanicz M et al.
American Journal of Medical Genetics. Part A, 2021
Letter to the Editor Regarding the Article "Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy".
Vetri L et al.
Neuropediatrics, 2021
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.
Vetri L et al.
European Journal of Medical Genetics, 2020