Key result
KCNC2 pathogenic variants were identified in 18 patients with various forms of epilepsy, establishing KCNC2 as a novel causative gene for epilepsy.
Why the study?
The study was conducted to analyze the clinical phenotype, genetic background, and biophysical function of disease-associated Kv3.2 variants encoded by KCNC2.
Population
18 patients with various forms of epilepsy and KCNC2 variants
Design
Observational case series and functional analysis
Authors
Loading...
KCNC2 variants expand the genetic spectrum of epilepsy; leaves open whether functional effects guide targeted therapies.
Observational (n=18)
Yes
KCNC2 is implicated as a novel causative gene for epilepsy, highlighting the role of KV3.2 in regulating brain excitability.
Schwarz et al. (2022) conducted an observational in Epilepsy (n=18). KCNC2 pathogenic variants was evaluated on Clinical phenotype, genetic background, and biophysical function. KCNC2 pathogenic variants were identified in 18 patients with various forms of epilepsy, establishing KCNC2 as a novel causative gene for epilepsy.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: