Kimino Fujimura1, 2, 3, Tojo Nakayama1, 4, Dylan Vaughan1, 4, Andrew Kodani1, 5, Ann Durbin6, Irene Bosch7, Mauro Teixeira8, Lee Gehrke6, 7, 9, Ganeshwaran Hitoshi Mochida1, 4, 10 (Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, MA, USA1, Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan2, Department of Pediatrics, Shin—yurigaoka General Hospital, Kawasaki, Kanagawa, Japan3, Department of Pediatrics, Harvard Medical School, Boston, MA, USA4, Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, CA, USA5, Program in Virology, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA6, Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Cambridge, MA, USA7, Department of Biochemistry and Immunology, Institute of Biological Sciences, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil8, Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA, USA9, Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA10)
Session information
English Session
Congenital abnormality
[E4] English Session 4
Congenital abnormality
Fri. Jun 1, 2018 10:50 AM - 11:50 AM Room 8 (1F 103)
Chair:Tomohiro Chiyonobu( Department of Pediatrics, Kyoto Prefectural University of Medicine,Kyoto, Japan), Tomonari Awaya(Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Kyoto, Japan, ranslational Research Department for Skin and Brain Diseases, Kyoto University Graduate School of Medicine, Kyoto, Japan)
Ganeshwaran Hitoshi Mochida1, 2, 3, Tojo Nakayama1, 2, Amanda Guise4, Kimino Fujimura1, 5, 6, Dylan Vaughan1, 2, Andrew Kodani1, 2, Ann Durbin7, Irene Bosch8, Mauro Teixeira9, Lee Gehrke7, 8, 10 (Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA1, Department of Pediatrics, Harvard Medical School, Boston, MA, USA2, Pediatric Neurology Unit, Massachusetts General Hospital, Boston, MA, USA3, F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA4, Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan5, Department of Pediatrics, Shin—yurigaoka General Hospital, Kanagawa, Japan6, Program in Virology, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA7, Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Cambridge, MA, USA8, Departamento de Bioquimica e Imunologia, Instituto de Ciencias Biologicas, Universidade Federal de Minas Gerais, Minas Gerais, Brazil9, Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA, USA10)
Shin Nabatame1, 2, 3, Hidehito Kondo1, 2, Ryoko Hayashi1, 2, Mika Hirotsune1, 2, Junpei Tanigawa1, 2, Yoshiko Iwatani1, 2, 3, Koji Tominaga1, 2, 3, Kuriko Shimono1, 2, 3, Keiichi Ozono1, 2 (Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Japan1, Epilepsy Center, Osaka University Hospital, Suita, Japan2, Division of Developmental Neuroscience, United Graduate School of Child Development, Osaka University, Suita, Japan3)
Tohru Okanishi1, Ayataka Fujimoto2, Sotaro Kanai1, Shinji Itamura1, Shinpei Baba1, Hideo Enoki1 (Department of Child Neurology, Seirei—Hamamatsu General Hospital, Shizuoka, Japan1, Comprehensive Epilepsy Center, Seirei—Hamamatsu General Hospital, Shizuoka, Japan2)
Yoshie Kurokawa, Akihiko Miyauchi, Hirokazu Yamagishi, Kazuhiro Muramatsu, Hitoshi Osaka, Takanori Yamagata (Department of Pediatrics, Jichi Medical University, Tochigi, Japan)
[E-022] A case of ephedrine—responsive congenital myasthenia syndrome due to novel mutations in COLQ
Hiroyuki Wakamoto1, Mika Kawabe1, Yoshiaki Yano1, Satoko Miyatake2, Naomichi Matsumoto2, Kinji Ohno3 (Department of Pediatrics, Ehime Rehabilitation Center for Children, Toon, Japan1, Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan2, Division of Neurogenetics, Nagoya University Gratuate School of Medicine, Nagoya, Japan3)