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Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.

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作者: Zhidong,Cen [1] ; Zhengwen,Jiang [2] ; You,Chen [1] ; Xiaosheng,Zheng [1] ; Fei,Xie [3] ; Xiaodong,Yang [1] ; Xingjiao,Lu [4] ; Zhiyuan,Ouyang [1] ; Hongwei,Wu [5] ; Si,Chen [1] ; Houmin,Yin [6] ; Xia,Qiu [1] ; Shuang,Wang [1] ; Meiping,Ding [7] ; Yelei,Tang [1] ; Feng,Yu [8] ; Caihua,Li [1] ; Tao,Wang [1] ; Hiroyuki,Ishiura [1] ; Shoji,Tsuji [1] ; Chuan,Jiao [1] ; Chunyu,Liu [2] ; Jianfeng,Xiao [9] ; Wei,Luo [9]
作者单位: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China. [1] Genesky Diagnostics Inc, Biobay, SIP, Suzhou, Jiangsu, China. [2] Intensive Care Unit, Zhejiang Hospital, Hangzhou, Zhejiang, China. [3] Department of Neurology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China. [4] Department of Neurology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. [5] Department of Neurology, Zhejiang Hospital, Hangzhou, Zhejiang, China. [6] Department of Neurology, Lishui People's Hospital, Lishui, Zhejiang, China. [7] Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China. [8] Genesky Biotechnologies Inc., Shanghai, China. [9] Department of Neurology, Faculty of Medicine, The University of Tokyo, Tokyo, Japan. [10] Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. [11] Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan. [12] Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China. [13] Department of Psychiatry, SUNY Upstate Medical University, Syracuse, New York, USA. [14] Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee, USA. [15]
DOI 10.1093/brain/awy160
PMID 29939203
发布时间 2022-12-07
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Brain : a journal of neurology

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