Found: 3

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  • Heterozygous variants in USP25 cause genetic generalized epilepsy.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3442, doi. 10.1093/brain/awae191
    By:
    • Fan, Cui-Xia;
    • Liu, Xiao-Rong;
    • Mei, Dao-Qi;
    • Li, Bing-Mei;
    • Li, Wen-Bin;
    • Xie, Huan-Cheng;
    • Wang, Jie;
    • Shen, Nan-Xiang;
    • Ye, Zi-Long;
    • You, Qiang-Long;
    • Li, Ling-Ying;
    • Qu, Xiao-Chong;
    • Chen, Li-Zhi;
    • Liang, Jin-Jie;
    • Zhang, Ming-Rui;
    • He, Na;
    • Li, Jia;
    • Gao, Jun-Ying;
    • Deng, Wei-Yi;
    • Liu, Wen-Zhe
    Publication type:
    Article

  • CELSR1 variants are associated with partial epilepsy of childhood.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2022, v. 189, n. 7/8, p. 247, doi. 10.1002/ajmg.b.32916
    By:
    • Chen, Zheng;
    • Luo, Sheng;
    • Liu, Zhi‐Gang;
    • Deng, Yan‐Chun;
    • He, Su‐Li;
    • Liu, Xiao‐Rong;
    • Yi, Yong‐Hong;
    • Wang, Jie;
    • Gao, Liang‐Di;
    • Li, Bing‐Mei;
    • Wu, Zhi‐Jun;
    • Ye, Zi‐Long;
    • Liang, De‐Hai;
    • Bian, Wen‐Jun;
    • Liao, Wei‐Ping
    Publication type:
    Article

  • Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.

    Published in:
    Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.825390
    By:
    • Luo, Sheng;
    • Liu, Zhi-Gang;
    • Wang, Juan;
    • Luo, Jun-Xia;
    • Ye, Xing-Guang;
    • Li, Xin;
    • Zhai, Qiong-Xiang;
    • Liu, Xiao-Rong;
    • Wang, Jie;
    • Gao, Liang-Di;
    • Liu, Fu-Li;
    • Ye, Zi-Long;
    • Li, Huan;
    • Gao, Zai-Fen;
    • Guo, Qing-Hui;
    • Li, Bing-Mei;
    • Yi, Yong-Hong;
    • Liao, Wei-Ping
    Publication type:
    Article