Frontiers in Genetics (Apr 2022)

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy

  • Zhang Chuan,
  • Zhang Chuan,
  • Zhang Chuan,
  • Cai Ruikun,
  • Li Qian,
  • Mei Shiyue,
  • Hao Shengju,
  • Yuan Yong,
  • Li Haibo,
  • Xiao Neng,
  • Zhao Yong,
  • Xue Huiqin,
  • Wang Weijia,
  • Hui Ling,
  • Zhou Bingbo,
  • Qinghua Zhang,
  • Wang Yan,
  • Cao Zongfu,
  • Cao Zongfu,
  • Ma Xu,
  • Ma Xu

DOI
https://doi.org/10.3389/fgene.2022.869210
Journal volume & issue
Vol. 13

Abstract

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Background: Epilepsy in childhood is a common and diverse neurological disorder. We conducted a genetic and phenotype analysis of a Chinese cohort of infants and children with epilepsy.Methods: We conducted a pedigree analysis of 260 Chinese patients with epilepsy onset during infancy or childhood by whole exome sequencing (WES).Results: Of the 260 probands analyzed, a genetic diagnosis was established in 135 patients. One-hundred eighty-eight phenotypes were detected in those 135 positive/likely positive patients, 106 patients had more than two phenotypes, and 67 patients had more than three phenotypes. A total of 142 variants of 81 genes were detected among the positive/likely positive patients. Among these 142 variants, of which 87 of 66 genes were novel.Conclusion: Our findings extend the variant spectrum of genes related to epilepsy. Our results will be useful for genetic testing and counseling for patients with epilepsy.

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