{Reference Type}: Journal Article
{Title}: Novel KCNC2 variant associated with developmental and epileptic encephalopathy.
{Author}: Huo L;Wu Q;Yang F;Liu X;Yang Z;Wang H;
{Journal}: Int J Dev Neurosci
{Volume}: 83
{Issue}: 4
{Year}: 2023 Jun 18
{Factor}: 2.54
{DOI}: 10.1002/jdn.10263
{Abstract}: 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.