Academic Journal
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
| العنوان: | Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy |
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| المؤلفون: | 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 |
| المساهمون: | National Key Research and Development Program of China |
| المصدر: | Frontiers in Genetics ; volume 13 ; ISSN 1664-8021 |
| بيانات النشر: | Frontiers Media SA |
| سنة النشر: | 2022 |
| المجموعة: | Frontiers (Publisher - via CrossRef) |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| DOI: | 10.3389/fgene.2022.869210 |
| DOI: | 10.3389/fgene.2022.869210/full |
| الاتاحة: | http://dx.doi.org/10.3389/fgene.2022.869210 https://www.frontiersin.org/articles/10.3389/fgene.2022.869210/full |
| Rights: | https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.B7A1A605 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fgene.2022.869210 |
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