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

Author:

Cen Zhidong1,Jiang Zhengwen2,Chen You1,Zheng Xiaosheng13,Xie Fei14,Yang Xiaodong15,Lu Xingjiao16,Ouyang Zhiyuan1,Wu Hongwei17,Chen Si18,Yin Houmin1,Qiu Xia1,Wang Shuang1,Ding Meiping1,Tang Yelei1,Yu Feng2,Li Caihua9,Wang Tao9,Ishiura Hiroyuki10,Tsuji Shoji1112,Jiao Chuan13,Liu Chunyu14,Xiao Jianfeng15,Luo Wei1

Affiliation:

1. Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China

2. Genesky Diagnostics Inc, Biobay, SIP, Suzhou, Jiangsu, China

3. Intensive Care Unit, Zhejiang Hospital, Hangzhou, Zhejiang, China

4. Department of Neurology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China

5. Department of Neurology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

6. Department of Neurology, Zhejiang Hospital, Hangzhou, Zhejiang, China

7. Department of Neurology, Lishui People’s Hospital, Lishui, Zhejiang, China

8. 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

9. Genesky Biotechnologies Inc., Shanghai, China

10. Department of Neurology, Faculty of Medicine, The University of Tokyo, Tokyo, Japan

11. Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

12. Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan

13. Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China

14. Department of Psychiatry, SUNY Upstate Medical University, Syracuse, New York, USA

15. Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee, USA

Funder

National Natural Science Foundation of China

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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