Yukie Arahata¹, Akihiko Ishiyama¹, Ryuta Tanaka², Shohei Kusabiraki¹, Eri Takeshita¹, Yuko Shimizu—motohashi¹, Takashi Saito¹, Hirofumi Komaki¹, Eiji Nakagawa¹, Kenji Sugai¹, Yuko Saito³, Masayuki Sasaki³ (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan¹, The Department of Pediatrics, Ibaraki Children's Hospital, Mito, Japan², Department of Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan³)

Masashi Ogasawara, Akihiko Ishiyama, Eri Takeshita, Yuuko Motohashi, Hirofumi Komaki, Masayuki Sasaki (National Center Hospital, National Center of Neurology and Psychiatry（NCNP）, Tokyo, Japan)

Kentaro Okamoto^{1, 2}, Mitsumasa Fukuda^{1, 3}, Risako Urate^{1, 4}, Isao Saito^{1, 5}, Takahiro Motoki¹, Toshihiro Jogamoto¹, Kaori Hino¹, Takatoshi Hosokawa^{6, 7}, Kenji Mori⁸, Yukihiko Konishi⁹, Eiichi Ishii¹ (Department of Pediatrics, Ehime University Graduate School of Medicine, Toon, Ehime, Japan¹, Department of Pediatrics, Ehime Prefectural Imabari Hospital, Imabari, Ehime, Japan², Department of Pediatrics, Ehime Prefectural Niihama Hospital, Niihama, Ehime, Japan³, Student, School of Medicine, Ehime University, Toon, Ehime, Japan⁴, Department of Community Health Systems Nursing, Ehime University Graduate School of Medicine, Toon, Ehime, Japan⁵, Department of Pediatrics, Kochi Medical School, Kochi, Japan⁶, Department of Pediatrics, Hosogi Hospital, Kochi, Kochi, Japan⁷, Department of Child Health & Nursing, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan⁸, Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan⁹)

Noriyuki Nishimura¹, Sota Iwatani¹, Keiji Yamana¹, Masashi Nagai¹, Ryosuke Bou¹, Hiroyuki Awano¹, Kaori Maeyama¹, Masahiro Nishiyama¹, Hiroaki Nagase¹, Masami Mizobuchi², Kazumichi Fijioka¹, Ichiro Morioka¹, Kazumoto Iijima¹, Hisahide Nishio³ (Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan¹, Department of Developmental Pediatrics, Shizuoka Children's Hospital, Shizuoka, Japan.², Department of Epidemiology, Kobe University Graduate School of Medicine, Kobe, Japan.³)

Mieko Yoshioka¹, Naoya Morisada², Daisaku Toyoshima³, Hisahide Nishio⁴, Kazumoto Iijima⁵, Yasuhiro Takeshima⁶, Tomoko Uehara⁷, Kenjiro Kosaki⁷ (Department of Pediatric Neurology, Kobe City Pediatric and General Rehabilitation Center for the Challenged, Kobe, Japan¹, Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan², Department of Neurology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan³, Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan⁴, Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan⁵, Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan⁶, Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan⁷)

Michio Inoue^{1, 2}, Akinori Uruha³, Jean—Luc Charuel⁴, Lucile Musset⁴, Shigeaki Suzuki⁵, Masataka Kuwana⁶, Tsuneyo Mimori⁷, Ichizo Nishino^{1, 2} (Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan¹, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan², Pierre and Marie Curie University—Paris VI, National Institute of Health and Medical Research（INSERM）, Mixed Research Unit 974, Center of Research in Myology, Institute of Myology, Pitié—Salpêtrière University Hospital, Paris, France　3, Department of Immunology, Immunochemistry & Autoimmunity Laboratory, Public Assistance-Hospitals of Paris, Pitié-Salpêtrière University Hospital, Paris, France　4, Department of Neurology, Keio University School of Medicine, Tokyo, Japan⁵, Department of Allergy and Rheumatology, Nippon Medical School Graduate School of Medicine, Tokyo, Japan⁶, Department of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan⁷)