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
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
  • [1] WHOLE EXOME SEQUENCING REVEALS NOVEL NOV AND DCAF13 MUTATIONS IN A CHINESE PEDIGREE WITH FAMILIAL CORTICAL MYOCLONIC TREMOR WITH EPILEPSY
    Lin, H.
    EPILEPSIA, 2016, 57 : 154 - 154
  • [2] Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy
    Lin, Hua
    Hu, Ningning
    Zhang, Yanfeng
    Wang, Yuping
    Macdonald, Robert L.
    NEUROSCIENCE LETTERS, 2018, 684 : 115 - 120
  • [3] Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family
    Cen, Zhi-dong
    Xie, Fei
    Lou, Dan-ning
    Lu, Xing-jiao
    Ouyang, Zhi-yuan
    Liu, Ling
    Cao, Jin
    Li, Dan
    Yin, Hou-min
    Wang, Zhong-jin
    Xiao, Jian-feng
    Luo, Wei
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2015, 168 (07) : 595 - 599
  • [4] Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing
    Liu, Ying
    Lan, Zhangzhang
    Zhao, Fang
    Zhang, Shuangchuan
    Zhang, Wenyong
    FRONTIERS IN GENETICS, 2020, 11
  • [5] Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy
    Gao, Lehong
    Li, Liping
    Ye, Jing
    Zhu, Xilin
    Shen, Ning
    Zhang, Xiating
    Wang, Dequan
    Gao, Yu
    Lin, Hua
    Wang, Yuping
    Liu, Ying
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2016, 41 : 81 - 85
  • [6] A Chinese familial cortical myoclonic tremor with epilepsy pedigree localized on chromosome 8q22.3-q24.13
    Cen, Zhidong
    Xie, Fei
    Lu, Xingjiao
    Yang, Xiaodong
    Luo, Wei
    MOVEMENT DISORDERS, 2014, 29 : S81 - S81
  • [7] Familial Cortical Myoclonic Tremor and Epilepsy: A New Pedigree Refines the FCMTE2 Locus
    Licchetta, Laura
    Pippucci, Tommaso
    Bisulli, Francesca
    Cantalupo, Gaetano
    Magini, Pamela
    Martinelli, Paolo
    Naldi, Ilaria
    Seri, Marco
    Tinuper, Paolo
    NEUROLOGY, 2013, 80
  • [8] Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy
    Suppa, Antonio
    Berardelli, Alfredo
    Brancati, Francesco
    Marianetti, Massimo
    Barrano, Giuseppe
    Mina, Concetta
    Pizzuti, Antonio
    Sideri, Giulio
    EPILEPSIA, 2009, 50 (05) : 1284 - 1288
  • [9] WHOLE EXOME SEQUENCING IDENTIFIED CANDIDATE GENE MUTATIONS IN A PEDIGREE OF FAMILIAL MYELOPROLIFERATIVE NEOPLASM
    Cher, Chae Yin
    Lam, Nelson Ka
    Lam, Stephen Sze Yuen
    He, Bai-Liang
    Ying, Dingge
    Chung, Brian Hon-Yin
    Au, Chun Hung
    Chan, Tsun Leung
    Ma, Edmond Shiu Kwan
    Liang, Raymond Hin Suen
    Kwong, Yok Lam
    Leung, Anskar Yu Hung
    EXPERIMENTAL HEMATOLOGY, 2017, 53 : S116 - S116
  • [10] Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up
    van Coller, Riaan
    van Rootselaar, Anne-Fleur
    Schutte, Clara
    van der Meyden, C. H.
    PARKINSONISM & RELATED DISORDERS, 2017, 38 : 35 - 40