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

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

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.869210

DOI=10.3389/fgene.2022.869210

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> 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.</p><p><bold>Methods:</bold> We conducted a pedigree analysis of 260 Chinese patients with epilepsy onset during infancy or childhood by whole exome sequencing (WES).</p><p><bold>Results:</bold> 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.</p><p><bold>Conclusion:</bold> 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.</p>