^○Hirofumi Kashii¹, Hiroko Taguchi², Yuji Saito³, Hisato Suzuki⁴, Hiroshi Futagawa⁵, Mikako Enokizono⁶, Ryunosuke Nomura¹, Sakurako Yamamoto¹, Ko Hirata¹, Ai Hoshino¹, Akihiko Ishiyama¹, Mitsumasa Fukuda¹, Hiroshi Yoshihashi⁵, Sahoko Miyama², Satoko Kumada¹ (1.Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan, 2.Department of Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan, 3.Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan, 4.Center for Medical Genetics, University of Keio, Tokyo, Japan, 5.Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan, 6.Department of Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan)

^○Risa Hashimoto, Ayaka Koide, Masahiro Ito (Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for the Disabled, Tokyo)

^○Masaki Miura, Hitomi Fujii, Eijun Seki, Kei Yamada, Moemi Hojo, Yu Kobayashi, Jun Tohyama (Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan)

^○Tamaki Ikegawa^1,2,3,4, Shotaro Morikawa¹, Kana Osada¹, Azusa Ikeda¹, Yu Tsuyusaki¹, Megumi Tsuji¹, Sumimasa Yamashita¹, Tomohide Goto¹, Yoko Saito², Kenji Kurosawa², Noriko Aida³, Mio Tanaka⁴ (1.Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan, 2.Division of Genetics, Kanagawa Children's Medical Center, Yokohama, Japan, 3.Division of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan, 4.Division of Diagnostic Pathology, Kanagawa Children's Medical Center, Yokohama, Japan)

^○Amane Matsuura¹, Takenori Tozawa¹, Yosuke Miyamoto¹, Masaharu Moroto², Masashi Zuiki¹, Tatsuji Hasegawa¹, Taisei Kayaki³, Naoko Yano³, Takeshi Yoshida³, Tomohiro Chiyonobu⁴, Masafumi Morimoto¹ (1.Department of Pediatrics, Kyoto Prefecture University of Medicine, Kyoto, Japan, 2.Department of Pediatrics, Fukuchiyama City Hospital, Fukuchiyama, Japan, 3.Department of Pediatrics, Graduate School of Medicine and Faculty of Medicine, Kyoto University, Kyoto, Japan, 4.Department of Gene Diagnosis and Therapy, Kyoto Prefecture University of Medicine, Kyoto, Japan)

^○Daisuke Tajima^1,2,3, Aska Ogino², Katsuya Tashiro², Masahiro Yanagishima¹, Muneaki Matsuo³ (1.Yanagishima Kids Clinic, Saga, Japan, 2.Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan, 3.Department of Pediatrics, SagaUniversity,Saga,Japan)

^○Takeshi Yaga¹, Itaru Hayakawa², Rika Kosaki³, Yuichi Abe², Akira Ishiguro¹ (1.Center for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan, 2.Division of Neurology, National Center for Child Health and Development, Tokyo, Japan, 3.Division of Medical Genetics, National Center for Child Health and Development)

^○Michiko Torio^1,2, Yuji Ueno², Ryoji Taira², Satoshi Akamine², Ryutaro Kira² (1.Department of General Medicine, Fukuoka City Children's Hospital, Fukuoka, Japan, 2.Department of Pediatric Neurology, Fukuoka City Children's Hospital, Fukuoka, Japan)

^○Keisuke Oki^1,2, Naoko Yamazaki¹, Ken Nakajima¹, Tomokazu Kimizu¹, Kouji Tominaga¹, Yukiko Mogami¹, Keiko Yanagihara¹, Yumiko Nishimura², Eriko Nishi², Yasuhiro Suzuki¹ (1.Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Osaka, Japan, 2.Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan)

^○Kaoru Eto^1,2, Yasushi Ito^2,3, Takuya Ookawa², Yuriko Ogawa², Tomoe Yanagishita², Yuya Sato², Hidetsugu Nakatsukasa², Satoru Nagata² (1.Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan, 2.Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan, 3.Department of Pediatrics, Aiiku Hospital, Tokyo, Japan)

^○Mika Hayakawa¹, Chisen Takeuchi², Hiroshi Kawame², Taiga Aoki³, Kumiko Yanagi³, Tadashi Kaname³, Yasutaka Toriyama¹, Naoko Katami¹, Kotoko Suzuki¹, Yoshiko Suzuki¹, Motoyuki Minamitani¹, Masayuki Imai¹ (1.Department of Pediatrics,Tokyo Kita Medical and Rehabilitation Center for the Disabled,Tokyo,Japan, 2.Department of Genetics,The Jikei University school of Medicine,Tokyo,Japan, 3.Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan)

^○Kenta Kajiwara, Pin Fee Chong, Yuko Ichimiya, Eriko Hatai, Akane Matsuda, Fumihiko Fujii, Yuri Sonoda, Yasunari Sakai, Shouichi Ohga (Department of Pediatrics, University of Kyushu, Fukuoka, Japan)

^○Keiko Koterazawa¹, Tomomi Kinugasa¹, Eriko Inoue¹, Hisahide Nishio², Shinji Kitayama¹ (1.Division of Pediatrics,Himeji City Center for the Disabled,Himeji,Japan, 2.Faculty of Rehabilitation,Kobe Gakuin University,Kobe Japn)

^○Takuji Nakamura, Naoya Higuchi, Masafumi Sanefuji, Muneaki Matsuo (Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan)

^○Mayumi Matsufuji, Nozomi Sano (Department of Pediatrics, Kagoshima city hospital)

^○Sadao Nakamura, Shingo Kurokawa, Maki Toyama, Shogo Nakada, Wataru Shimabukuro, Noriko Nakayama, Kazuya Hamada, Takuya Kaneshi, Noriko KInjyo, Yasutugu Chinen, Koichi Nakanishi (Department of Pediatrics, University of the Ryukyus, Okinawa, Japan)

^○Emiko Kobayashi¹, Tomoki Yamauti¹, Sotaro Yuzawa¹, Hiroaki Murakami¹, Tatuya Sakasita¹, Kunihiro Matunami¹, Eiji Matukuma¹, Hideo Kaneko¹, Atushi Imamura¹, Mamoru Yokoyama², Noriko Otuki², Kayoko Saito² (1.Department of Pediatrics, Gifu Prefectural General Medical Cententer,Gifu, Japan, 2.Institute of Medical Genetics Tokyo Women's Medical University)

^○Tomomi Kinugasa, Eriko Inoue, Keiko Koterazawa, Shinji Kitayama (Division of Pediatrics,Himeji City Center for the Disabled,Himeji,Japan)

^○Tamaki Kato, Yumi Ikeda, Mamoru Yokomura, Mari Urano, Akiko Ueda, Mayuri Ito, Kayoko Saito (Insutitute of Clinical Genomics, Tokyo Women's Medical University, Tokyo, Japan)

^○Taihei Homma¹, Riccardo Masson², Crystal Proud³, Julie A. Parsons⁴, Nancy L. Kuntz⁵, Richard S. Finkel⁶, Foster Richard⁷, Li Wenjing⁸, Youn Bora⁸, Angela D. Paradis⁸, Rane Shweta⁸, Angela D. Paradis¹⁰, Rane Shweta¹⁰ (1.Biogen Japan Ltd, 2.Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy, 3.Children's Hospital of The King's Daughters, Norfolk, VA, USA, 4.Children's Hospital Colorado, Aurora, CO, USA, 5.Ann and Robert H Lurie Childrens Hospital of Chicago, Chicago, IL, USA, 6.Children's Hospital of Philadelphia, Philadelphia, PA, USA, 7.Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN, USA, 8.Massachusetts General Hospital, Boston, MA, USA, 9.Biogen, Maidenhead, Berkshire, UK, 10.Biogen, Cambridge, MA, USA)

^○Yosuke Tachibana, Ryusuke Sato, Haruki Makioka, Misuzu Hoshino, Jin Mingshou (Biogen Japan, Tokyo, Japan)

^○Junpei Ohiwa, Shinichiro Morichi, Yu Ishida, Toshihiro Nakayama, Haruka Nakazawa, Rie Shimizu, Yusuke Watanabe, Tomoko Takamatsu, Mika Takeshita, Natsumi Morishita, Shingo Oana, Gaku Yamanaka (Department of Pediatrics and Adolescent Medicine, Tokyo Medical University)

^○Chisaki Satomura¹, Akiko Hiraiwa¹, Yu Saitou¹, Taisuke Katou¹, Hiroko Hirai¹, Serina Majima¹, Asami Takasaki¹, Tomomi Tanaka¹, Kazushi Miya², Yusuke Takashima³, Kenji Watanabe³, Atsuhito Takeda⁴, Kei Murayama⁵, Chihaya Imai¹ (1.Department of Pediatrics,University of Toyama,Toyama,Japan, 2.Department of Educational Sciences,University of Toyama,Toyama, Japan, 3.Department of Internal Medicine for Inflammatory Bowel Disease, University of Toyama,Toyama,Japan, 4.Department of Pediatrics, Hokkaido University ,Sapporo,Japan, 5.Department of Metabolism,Chiba Children's Hospital,Chiba,Japan)

^○Atsushi Fujimoto¹, Yu Tsuyusaki¹, Shotaro Morikawa¹, Kana Osada¹, Tamaki Ikegawa¹, Azusa Ikeda¹, Megumi Tsuji¹, YukoYuko Shinbo², Takuya Naruto², Kenji Kurosawa³, Tomohide Goto¹ (1.Department of neurology, Kanagawa medical children's center, Yokohama, Japan, 2.Clinical research institute, Kanagawa medical children's center, Yokohama, Japan, 3.Department of genetics, Kanagawa medical children's center, Yokohama, Japan)

^○Haruna Mitsuya¹, Mitsuru Kashiwagi¹, Chizu Oba¹, Shohei Nomura², Takuya Tanabe², Akira Ashida³ (1.Hirakata city, Osaka, Japan, 2.Hirakata city, Osaka, Japan, 3.Takatsuki city, Osaka, Japan)

^○Norihiko Mori¹, Kenichi Maeda¹, Takafumi Shimoda¹, Kozue Mori¹, Yuusuke Saitou¹, Yasuhiro Kimoto¹, Kei Murayama^2,3, Hiroshi Moritake¹ (1.Department of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan, 2.Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan, 3.Department of Metabolism, Chiba Childlen's Hospital, Chiba, Japan)