Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing

被引：0
|
作者：
Xuechao Zhao
Haofeng Ning
Yanhong Wang
Ganye Zhao
Shiyue Mei
Ning Liu
Conghui Wang
Aojie Cai
Erhu Wei
Xiangdong Kong
机构：
[1] The First Affiliated Hospital of Zhengzhou University,The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology
[2] Luoyang Maternal and Child Health Care Hospital,Department of Medical Genetics and Antenatal Diagnosis
[3] Zhengzhou Children’s Hospital,Henan Provincial Key Laboratory of Children’s Genetics and Metabolic Diseases, Children’s Hospital Affiliated To Zhengzhou University
[4] Peking University First Hospital,Department of Pediatrics
[5] First Affiliated Hospital of Zhengzhou University,Department of Pediatrics
来源：
Neurological Sciences | 2022年 / 43卷
关键词：
Pediatric epilepsy; Genetic analysis; Novel variants; De novo; Whole-exome sequencing;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：4439 / 4451
页数：12
相关论文
共 50 条
  • [21] Whole-exome sequencing identified a novel mutation in CHM of a Chinese family
    Hui Tang
    Jun Mao
    Jingjing Xiang
    Minjuan Liu
    Haibo Li
    Ting Wang
    Journal of Genetics, 2021, 100
  • [22] Whole-exome sequencing reveals rare genetic variations in ovarian cell tumor
    Kim, Seungyeon
    Kim, Songmi
    Mun, Seyoung
    Kwak, Yongsik
    Suh, Kwang-Sun
    Choi, Song-Yi
    Han, Kyudong
    BOSNIAN JOURNAL OF BASIC MEDICAL SCIENCES, 2022, 22 (03) : 403 - 411
  • [23] Specific genetic aberrations of parathyroid in Chinese patients with tertiary hyperparathyroidism using whole-exome sequencing
    Li, Lei
    Sheng, Qixuan
    Zeng, Huajin
    Li, Wei
    Wang, Qiang
    Ma, Guanjun
    Xu, Xinyun
    Qiu, Ming
    Zhang, Wei
    Shan, Chengxiang
    FRONTIERS IN ENDOCRINOLOGY, 2023, 14
  • [24] Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia
    Wu, Rui
    Chen, Wen -Tian
    Dou, Wei-Kang
    Zhou, Hui-Min
    Shi, Ming
    HELIYON, 2024, 10 (11)
  • [25] Whole-exome sequencing has revealed novel genetic characteristics in intracranial germ cell tumours in the Chinese
    Huang, Xiang
    Huang, Jianhan
    Zhou, Xiaoyu
    Zhang, Chao
    Ding, Xinghua
    Wong, Peter Jih Cheng
    Wang, Yang
    Zhang, Rong
    HISTOPATHOLOGY, 2024, 84 (07) : 1199 - 1211
  • [26] Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing
    Li, Ying
    Leung, Elaine Lai-Han
    Pan, Hudan
    Yao, Xiaojun
    Huang, Qingchun
    Wu, Min
    Xu, Ting
    Wang, Yuwei
    Cai, Jun
    Li, Runze
    Liu, Wei
    Liu, Liang
    ONCOTARGET, 2017, 8 (67) : 111119 - 111129
  • [27] Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia
    Hua, Juan
    Wan, Yang-yang
    JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2019, 36 (03) : 529 - 534
  • [28] Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing
    Liang, Chao
    Wang, Yong-jie
    Wei, Yu-xuan
    Dong, Yang
    Zhang, Zhi-chang
    ORTHOPAEDIC SURGERY, 2020, 12 (03) : 990 - 996
  • [29] The Application of Whole-Exome Sequencing in Patients With FUO
    Guo, Wanru
    Feng, Xuewen
    Hu, Ming
    Shangguan, Yanwan
    Xia, Jiafeng
    Hu, Wenjuan
    Li, Xiaomeng
    Zhang, Zunjing
    Shi, Yunzhen
    Xu, Kaijin
    FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY, 2022, 11
  • [30] Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients
    Tsai, Meng-Che
    Weng, Yun-Han
    Lin, Yu-Fang
    Wang, Yi-Chieh
    Yu, Hui-Wen
    Chou, Yen-Yin
    Chen, Peng-Chieh
    BIOMEDICINES, 2023, 11 (02)
12345