Key result
KCNC2 pathogenic variants in 18 epilepsy patients showed gain of function in 3 severe cases and loss of function in 1 milder case, with 8 patients achieving seizure freedom on valproic acid.
Population
18 patients with various forms of epilepsy with KCNC2 pathogenic variants.
Design
Case_series
Authors
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KCNC2 variants may guide epilepsy phenotyping and valproic acid trials; hypothesis-generating and requires prospective validation.
Observational (n=18)
KCNC2 pathogenic variants are associated with a spectrum of epilepsy phenotypes driven by both gain- and loss-of-function mechanisms, with some patients showing a strong response to valproic acid.
Schwarz et al. (2022) conducted an observational in Epilepsy with KCNC2 pathogenic variants (n=18). KCNC2 pathogenic variants was evaluated on Clinical phenotype, genetic background, and biophysical function. KCNC2 pathogenic variants in 18 epilepsy patients showed gain of function in 3 severe cases and loss of function in 1 milder case, with 8 patients achieving seizure freedom on valproic acid.
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