^○Chihiro Yonee¹, Ayano Matsui², Akihiko Ishiyama¹, Hirofumi Komaki¹, Hiroyuki Yajima¹, Yasuyuki Iwata³, Eri Takeshita¹, Yuko Motohashi¹, Takashi Saito¹, Eiji Nakagawa¹, Kenji Sugai¹, Masayuki Sasaki¹ (1.The Department of ChildNeurology, National Center of Neurology and Psychiatry, Tokyo, Japan, 2.The Department of Orthopedic, National Center of Neurology and Psychiatry, Tokyo, Japan, 3.The Department of Rehabilitation, National Center of Neurology and Psychiatry, Tokyo, Japan)

^○Terumi Murakami^1,2, Katsuhisa Ogata¹, Kana Yatabe¹, Mikiya Suzuki¹, Kazunari Monma¹, Ikuya Nonaka¹, Takuhisa Tamura¹ (1.Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan, 2.Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan)

^○Takuya Hiraide¹, Taiju Hayashi¹, Rei Urushibata¹, Miki Asahina¹, Tomoko Matsubayashi¹, Tomohide Taguchi¹, Teruhiko Suzuki², Yusaku Endo², Ken Miyamoto³, Koichi Hirano², Yoko Sugie⁴, Hideo Sugie³, Tokiko Fukuda¹ (1.Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan, 2.Department of Pediatrics, Hamamatsu City Medical Center for Developmental Medicine, Shizuoka, Japan, 3.Department of Pediatrics, Hamamatsu Medical Center, Shizuoka, Japan, 4.Aoicho Children Clinic, Shizuoka, Japan)

^○Mariko Okubo^1,2, Kanako Kaneko^1,3, Harumasa Nakamura⁴, Hirofumi Komaki⁵, Madoka Mori⁶, Satomi Mitsuhashi¹, En Kimura⁴, Ichizo Nishino^1,3 (1.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan, 2.Department of Pediatrics, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Tokyo, Japan, 3.Department of Genome Medicine Development, Medical Genome Center, NCNP, 4.Department of Promoting Clinical Trial and Translational Medicine, Translational Medical Center, NCNP, 5.Department of child neurology, National Center Hospital, NCNP, Kodaira-shi, Japan, 6.Department of Neurology, National Center Hospital, NCNP, Kodaira-shi, Japan)

^○Kaori Hino^1,2, Yuri Kitamura³, Reiko Arakawa¹, Eri Kondo¹, Atsuko Nishikawa⁴, Ichizo Nishino⁴, Mariko Eguchi², Mitsumasa Fukuda², Kayoko Saito¹ (1.Institute of medical genetics, Tokyo Women's Medical University, Tokyo, Japan, 2.Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan, 3.Department of Pediatrics, Juntendo University Nerima Hospital, Tokyo, Japan, 4.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan)