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Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

Authors

  • Sheng Zeng Department of Neurology, Xiangya Hospital, Central South University, Changsha, China PubMed articlesGoogle scholar articles
  • Mei-yun Zhang Department of Neurology, Tianjin Union Medical Center, Tianjin, China PubMed articlesGoogle scholar articles
  • Xue-jing Wang Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China Institute of Parkinson and Movement Disorder, Zhengzhou University, Zhengzhou, Hunan, China PubMed articlesGoogle scholar articles
  • Zheng-mao Hu Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China PubMed articlesGoogle scholar articles
  • Jin-chen Li Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, Hunan, China PubMed articlesGoogle scholar articles
  • Nan Li Department of Neurology, Xiangya Hospital, Central South University, Changsha, China PubMed articlesGoogle scholar articles
  • Jun-ling Wang Department of Neurology, Xiangya Hospital, Central South University, Changsha, China Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China PubMed articlesGoogle scholar articles
  • Fan Liang GrandOmics Biosciences, Beijing, China PubMed articlesGoogle scholar articles
  • Qi Yang GrandOmics Biosciences, Beijing, China PubMed articlesGoogle scholar articles
  • Qian Liu Raymond G Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Li Fang Raymond G Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Jun-wei Hao Department of Neurology, General Hospital, Tianjin Medical University, Tianjin, China PubMed articlesGoogle scholar articles
  • Fu-dong Shi Department of Neurology, General Hospital, Tianjin Medical University, Tianjin, China PubMed articlesGoogle scholar articles
  • Xue-bing Ding Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China Institute of Parkinson and Movement Disorder, Zhengzhou University, Zhengzhou, Hunan, China PubMed articlesGoogle scholar articles
  • Jun-fang Teng Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China Institute of Parkinson and Movement Disorder, Zhengzhou University, Zhengzhou, Hunan, China PubMed articlesGoogle scholar articles
  • Xiao-meng Yin Department of Neurology, Xiangya Hospital, Central South University, Changsha, China Institute of Parkinson and Movement Disorder, Zhengzhou University, Zhengzhou, Hunan, China PubMed articlesGoogle scholar articles
  • Hong Jiang Department of Neurology, Xiangya Hospital, Central South University, Changsha, China Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, Hunan, China Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China PubMed articlesGoogle scholar articles
  • Wei-ping Liao Institute of Neuroscience, Department of Neurology of The Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Guangzhou Medical University, Guangzhou, China PubMed articlesGoogle scholar articles
  • Jing-yu Liu Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, China PubMed articlesGoogle scholar articles
  • Kai Wang Raymond G Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Kun Xia Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China PubMed articlesGoogle scholar articles
  • Bei-sha Tang Department of Neurology, Xiangya Hospital, Central South University, Changsha, China Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, Hunan, China Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China Parkinson’s Disease Center of Beijing Institute for Brain Disorders, Beijing, China Collaborative Innovation Center for Brain Science and China, Shanghai, China Collaborative Innovation Center for Genetics and Development, Shanghai, China PubMed articlesGoogle scholar articles
  1. Correspondence to Prof. Kai Wang, Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA ; wangk{at}email.chop.edu, Prof. Kun Xia, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China ; xiakun48{at}163.com and Dr Bei-sha Tang, Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; bstang7398{at}163.com
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Citation

Zeng S, Zhang M, Wang X, et al
Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

Publication history

  • Received May 14, 2018
  • Revised July 25, 2018
  • Accepted August 15, 2018
  • First published September 7, 2018.
Online issue publication 
March 22, 2019

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