Associated Papers
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
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
KCNC2 variants of uncertain significance are also associated to various forms of epilepsy.
Seiffert S et al.
Frontiers in Neurology, 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
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
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Schwarz N et al.
Neurology, 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
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