%0 Journal Article
%T Novel KCNC2 variant associated with developmental and epileptic encephalopathy.
%A Huo L
%A Wu Q
%A Yang F
%A Liu X
%A Yang Z
%A Wang H
%J Int J Dev Neurosci
%V 83
%N 4
%D 2023 Jun 18
%M 37203270
%F 2.54
%R 10.1002/jdn.10263
%X The KCNC2 gene encodes Kv3.2, which is a member of the voltage-gated potassium channel subfamily. It is crucial for the generation of fast-spiking properties in cortical GABAergic interneurons. Recently, KCNC2 variations were found to be associated with epileptic encephalopathy in unrelated individuals. Here, we report a Chinese patient with developmental and epileptic encephalopathy (DEE) and motor development delay. Whole-exome sequencing (WES) revealed a novel heterozygous variant in the KCNC2 gene NM_139137.4:c.1163T>C (p.Phe388Ser), and subsequent Sanger sequencing showed that it was a de novo mutation. We identified the KCNC2 likely pathogenic variant in a DEE patient by reanalysis of WES data in a Chinese family. Our study enriched the variation spectrum of the KCNC2 gene and promoted the application of WES technology and data reanalysis in the diagnosis of epilepsy.