Yuji Nakamura¹，Issei S Shimada²，Masanori Fujimoto¹，Emi Sato¹，Fuyuki Miya³，Tatsuhiko Tsunoda³，Yukimune Okubo⁴，Kazuhiro Haginoya⁴，Eriko Koshimizu⁵，Satoko Miyatake⁵，Naomichi Matsumoto⁵，Akihiko Miyauchi⁶，Yoichi Kato²，Shinji Saitoh¹ (1. Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan，2. Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Naogya, Japan，3. Department of Medical Science Mathematics, Medical Research Institute, Tokyo, Japan，4. Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan，5. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan，6. Department of Pediatrics, Jichi Medical University, Tochigi, Japan)

Mariko Ikeda¹，Syumpei Uchino²，Yoshinobu Oyazato³，Ichizo Nishino⁴，Masakazu Mimaki²，Kandai Nozu⁵ (1. Department of Clinical Genetics, Fujita Health University Hospital, Aichi, Japan，2. Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan，3. Department of Pediatrics, Kakogawa Central City Hospital, Hyogo, Japan，4. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry（NCNP）, Tokyo, Japan，5. Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan)

Yurika Numata—Uematsu¹，Mitsugu Uematsu¹，Toshiyuki Yamamoto²，Hirotomo Saitsu³，Yu Katata¹，Yoshitsugu Oikawa¹，Naoya Saijyou¹，Takehiko Inui⁴，Kei Murayama⁵，Akira Ohtake^6,7，Hitoshi Osaka⁸，Jun—Ichi Takanashi⁹，Shigeo Kure¹，Ken Inoue¹⁰ (1. Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan，2. Institute of Medical Genetics, Tokyo Women's Medical University，3. Department of Biochemistry, Hamamatsu University School of Medicine，4. Department of Pediatric Neurology, Miyagi Children's Hospital，5. Department of Metabolism, Chiba Children's Hospital，6. Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University，7. Center for Intractable Diseases, Saitama Medical University Hospital，8. Department of Pediatrics, Jichi Medical University，9. Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center，10. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry)

Mizuki Kobayashi¹，Akihiko Miyauchi¹，Eriko Jimbo¹，Yutaka Akiyama²，Takanori Yamagata¹，Hitoshi Osaka¹ (1. Department of Pediatrics, Jichi Medical University，2. Department of Computer Science, School of Computing, Tokyo Institute of Technology, Tokyo, Japan)