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Novel KCNC2 variant associated with developmental and epileptic encephalopathy.
Huo, Liang; Wu, Qiong; Yang, Fan; Liu, Xueyan; Yang, Zuozhen; Wang, Hua.
Afiliação
  • Huo L; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
  • Wu Q; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
  • Yang F; Cipher Gene LLC, Beijing, China.
  • Liu X; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
  • Yang Z; Cipher Gene LLC, Beijing, China.
  • Wang H; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
Int J Dev Neurosci ; 83(4): 357-367, 2023 Jun.
Article em En | MEDLINE | ID: mdl-37203270
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_139137.4c.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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos das Habilidades Motoras / Epilepsia Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Int J Dev Neurosci Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos das Habilidades Motoras / Epilepsia Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Int J Dev Neurosci Ano de publicação: 2023 Tipo de documento: Article