Whole exome sequencing reveals novel NOV and DCAF13 mutations in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy

被引：0
|
作者：
Lin, H. [1 ]
机构：
[1] Capital Med Univ, Xuanwu Hosp, Neurol, Beijing, Peoples R China
来源：
EUROPEAN JOURNAL OF NEUROLOGY | 2016年 / 23卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P31193
引用
收藏
页码：697 / 697
页数：1
相关论文
共 50 条
  • [41] Familial cortical myoclonic tremor with epilepsy in Chinese population: Clinical and neurophysiologic features in nine pedigrees from People's Republic of China
    Cen, Z.
    Huang, C.
    Yin, H.
    Xie, F.
    Lu, X.
    Ouyang, Z.
    Lou, Y.
    Qiu, X.
    Wang, Z.
    Xiao, J.
    Ding, M.
    Luo, W.
    MOVEMENT DISORDERS, 2016, 31 : S682 - S683
  • [42] Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion
    Zhou, Yongxing
    Sood, Raman
    Wang, Qun
    Carrington, Blake
    Park, Morgan
    Young, Alice C.
    Birnbaum, Daniel
    Liu, Zhao
    Ashizawa, Tetsuo
    Mullikin, James C.
    Koubeissi, Mohamad Z.
    Liu, Paul
    EPILEPSIA OPEN, 2021, 6 (01) : 102 - 111
  • [43] Whole exome sequencing reveals novel EYS mutations in Russian patients with autosomal recessive retinitis pigmentosa
    Ivanova, Marianna Yevgenievna
    Atarshchikov, Dmitry
    Pomerantseva, Ekaterina
    Tolmacheva, Ekaterina
    Konovalov, Fedor
    Strelnikov, Vladimir
    Kurishev, Artemiy
    Barh, Debmalya
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020, 61 (07)
  • [44] Whole exome sequencing of uterine serous carcinomas reveals racial differences in known and novel driver mutations
    Cote, Michele L.
    Dyson, Greg
    Craig, Douglas
    Ruterbusch, Julie J.
    Boerner, Julie
    Elshaikh, Mohamed A.
    Conrads, Thomas P.
    Bateman, Nicholas W.
    Maxwell, George L.
    Darcy, Kathleen M.
    Makohon-Moores, Sasha
    O'Connor, Timothy D.
    Abdallah, Hassan
    Corey, Logan
    Kheil, Mira
    Ali-Fehmi, Rouba
    CANCER RESEARCH, 2022, 82 (12)
  • [45] Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
    Xuechao Zhao
    Haofeng Ning
    Yanhong Wang
    Ganye Zhao
    Shiyue Mei
    Ning Liu
    Conghui Wang
    Aojie Cai
    Erhu Wei
    Xiangdong Kong
    Neurological Sciences, 2022, 43 : 4439 - 4451
  • [46] Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
    Zhao, Xuechao
    Ning, Haofeng
    Wang, Yanhong
    Zhao, Ganye
    Mei, Shiyue
    Liu, Ning
    Wang, Conghui
    Cai, Aojie
    Wei, Erhu
    Kong, Xiangdong
    NEUROLOGICAL SCIENCES, 2022, 43 (07) : 4439 - 4451
  • [47] Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients
    Genyin Dai
    Zhening Pu
    Xueying Cheng
    Jie Yin
    Jun Chen
    Ting Xu
    Han Zhang
    Zewei Li
    Xuan Chen
    Jinlong Chen
    Yuming Qin
    Shiwei Yang
    Pediatric Cardiology, 2019, 40 : 950 - 957
  • [48] Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients
    Dai, Genyin
    Pu, Zhening
    Cheng, Xueying
    Yin, Jie
    Chen, Jun
    Xu, Ting
    Zhang, Han
    Li, Zewei
    Chen, Xuan
    Chen, Jinlong
    Qin, Yuming
    Yang, Shiwei
    PEDIATRIC CARDIOLOGY, 2019, 40 (05) : 950 - 957
  • [49] Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy
    Peng, Yujiao
    Zhao, Rulian
    Dai, Erkuan
    Peng, Li
    He, Yunqi
    Li, Shujin
    Yang, Mu
    EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2022, 32 (06) : 3220 - 3226
  • [50] Whole-Exome Sequencing Reveals Novel Variations in Patients with Familial Von Hippel-Lindau Syndrome
    Zhou, Yuhao
    Liu, Jian
    Chu, Liangzhao
    Dong, Minghao
    Feng, Luqian
    WORLD NEUROSURGERY, 2021, 150 : E696 - E704
12345