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.
摘要：
KCNC2基因编码Kv3.2，它是电压门控钾通道亚家族的成员。对于皮质GABA能中间神经元中快速尖峰特性的产生至关重要。最近,发现KCNC2变异与无关个体的癫痫性脑病有关。这里,我们报道了一名患有发育性和癫痫性脑病（DEE）和运动发育迟缓的中国患者。全外显子组测序（WES）揭示了KCNC2基因NM_139137.4：c.1163T>C（p。Phe388Ser)，随后的Sanger测序显示这是一个从头突变。通过重新分析一个中国家庭的WES数据，我们确定了一名DEE患者的KCNC2可能致病变异。我们的研究丰富了KCNC2基因的变异谱，促进了WES技术和数据再分析在癫痫诊断中的应用。
