Art

J-GLOBAL ID：201902241980969508   Reference number：19A2576096

Intronic (TTTGA)_n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy

SAMD12におけるintronic(TTTGA)N挿入はてんかんを伴う家族性皮質ミオクローヌス性振戦を引き起こす【JST・京大機械翻訳】

Author (35)： Cen Zhidong (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Cen Zhidong (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Chen You (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Chen You (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Yang Dehao (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Yang Dehao (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Zhu Qingchen (CAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China) ,  Chen Si (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Chen Si (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Chen Xinhui (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Wang Bo (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Xie Fei (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Xie Fei (Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Ouyang Zhiyuan (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Jiang Zhengwen (Genesky Diagnostics Inc, Biobay, SIP, Suzhou, Jiangsu, China) ,  Fu Aisi (Key Laboratory of Combinatorial Biosynthesis and Drug Discovery, Ministry of Education and School of Pharmaceutical Sciences, Wuhan University, Wuhan, Hubei, China) ,  Hu Ben (Key Laboratory of Combinatorial Biosynthesis and Drug Discovery, Ministry of Education and School of Pharmaceutical Sciences, Wuhan University, Wuhan, Hubei, China) ,  Yin Houmin (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Qiu Xia (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Yu Feng (Genesky Diagnostics Inc, Biobay, SIP, Suzhou, Jiangsu, China) ,  Du Xiaoping (Epilepsy Center, Department of Neurosurgery, Humanity Hospital, Xiamen, Fujian, China) ,  Du Xiaoping (Department of Neurology, West District, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, China) ,  Hao Weicheng (Department of Neurology, West District, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, China) ,  Liu Yuxi (Institute of Epilepsy, Shanxi Medical University, Taiyuan, Shanxi, China) ,  Wang Haotian (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Wang Haotian (Cancer Institute, Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Wang Lebo (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Yu Xiafei (Department of Biophysics, Institute of Neuroscience, NHC and CAMS Key Laboratory of Medical Neurobiology, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Xiao Yichuan (CAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China) ,  Liu Chunyu (Department of Psychiatry, SUNY Upstate Medical University, Syracuse, New York, USA) ,  Xiao Jianfeng (Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee, USA) ,  Zhou Yongxing (Department of Neurology, MedStar St Mary’s Hospital/Georgetown University Hospital, MedStar Medical Group, Leonardtown, Maryland, USA) ,  Yang Wei (Department of Biophysics, Institute of Neuroscience, NHC and CAMS Key Laboratory of Medical Neurobiology, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Zhang Baorong (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China) ,  Luo Wei (Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China)
Material： Movement Disorders
Volume： 34  Issue： 10  Page： 1571-1576  Publication year： 2019 
JST Material Number： W2689A  ISSN： 0885-3185  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： BACKGROUND: Intronic (TTTCA)<s...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=19A2576096&from=J-GLOBAL&jstjournalNo=W2689A") }}

Thesaurus term： gene ,  nucleotide sequence ,  *Myoclonus ,  Heredity ,  *Epilepsy ,  intron ,  targeting ,  *tremor (disease) ,  *cortex ,  polymerase chain reaction ,  pedigree ,  causative gene ,  prediction accuracy ,  Chinese
Semi thesaurus term： 無症候性キャリア , 【Automatic Indexing@JST】

Author keywords (4)： familial cortical myoclonic tremor with epilepsy ,  SAMD12 ,  (TTTGA)n insertion ,  long-read sequencing

JST classification (2)： Nervous system diseases  (GN03000O) ,  Genetic variation  (EC01030Y)

Terms in the title (5)： てんかん ,  家族 ,  皮質 ,  ミオクローヌス ,  振戦