Naomi Hino—fukuyo¹, HIRPSHI KURODA², JUNPEI KOBAYASHI², DAISUKE ANDO², YOUJI SASAHARA¹, SETSUYA AIBA³, SHIGEO KURE¹ (1.Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan, 2.Department pf Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan, 3.Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan)

Shuhei Fujino¹, SAHOKO MIYAMA¹, HIROSHI YOSHIHASHI², SATOSHI IHARA³ (1.Department of Pediatric Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan, 2.Department of Medical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan, 3.Department of Neurosurgery, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan)

Atsuo Kikuchi¹, Tomoko Kobayashi^1,2, Rui-ming Shi^1,3, Ryo Sato¹, Mitsugu Uematsu¹, Kumiko An⁴, Shigeo Kure¹ (1.Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan, 2.Tohoku Medical Megabank Organization (ToMMo), Sendai, Japan, 3.Department of Pediatrics, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China, 4.Department of Clinical Laboratory, Tohoku University Hospital, Sendai, Japan)

Kyoko Takano^1,2, KEIKO WAKUI^1,2, TETSUHIRO FUKUYAMA³ (1.Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 2.Division of Clinical and Molecular Genetics, Shinshu University Hospital, Matsumoto, Japan, 3.Division of Neurology, Nagano Children's Hospital, Azumino, Japan)

Masaharu Moroto^1,2, Yui Zen^2,3,4, Shinsuke Adachi², Kenichi Isoda^2,5, Tomohito Okumura⁶, Atsuhiko Handa⁷, Maki Fukami⁸, Gen Nishimura⁹ (1.Kyoto Prefectural Chutan-Nishi Public Health Center, Kyoto, Japan, 2.Department of Pediatrics, Fukuchiyama City Hospital, Kyoto, Japan, 3.Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan, 4.Department of Pediatrics, Kyoto Prefectural Maizuru Rehabilitation Center for Children, Kyoto, Japan)

Kaoru Amemiya, AKIKO MIYATA (Saiwaikodomoclinic,Tokyo,Japan)

Saya Yamada^1,2, Mika Yayakawa^1,2, Hiroshi Tarui¹, Susumu Sugihara¹, Yoshiko Suzuki¹, Yuko Hirata^1,2, Yukikatsu Ochiai¹, Masayuki Imai¹ (1.Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan, 2.Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan)