Key result
Whole-exome sequencing identified a novel de novo heterozygous variant in the KCNC2 gene (c.1163T>C, p.Phe388Ser) in a Chinese patient with developmental and epileptic encephalopathy.
Case Report (n=1)
Identification of a novel de novo KCNC2 variant expands the genetic spectrum of developmental and epileptic encephalopathy.
May expand genetic testing considerations in developmental and epileptic encephalopathy; hypothesis-generating and requires validation before clinical adoption.
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.
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Huo et al. (2023) conducted a case report in Developmental and epileptic encephalopathy (DEE) (n=1). KCNC2 gene NM_139137.4:c.1163T>C (p.Phe388Ser) variant was evaluated on Identification of pathogenic variant. Whole-exome sequencing identified a novel de novo heterozygous variant in the KCNC2 gene (c.1163T>C, p.Phe388Ser) in a Chinese patient with developmental and epileptic encephalopathy.
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