Hideaki Mashimo¹, Yohane Miyata¹, Ikuko Shirai¹, Satoko Kumada¹, Hiroya Nishida¹, Shumpei Uchino^1,2, Konomi Shimoda^1,2, Yasuo Hachiya^1,3, Eiji Kurihara¹ (1.The Department of Neurological pediatrics, Tokyo Metropolitan Neurology Hospital, Tokyo, Japan, 2.The department of Pediatrics, The university of Tokyo Hospital, Tokyo, Japan, 3.The department of Pediatrics, National Hospital organization Higashi-Nagano Hospital, Nagano, japan)

Pin Fee Chong^1,2, Fumiya Yamashita¹, Kenichi Maeda¹, Ryoko Nakamura¹, Kimitoshi Nakamura³, Ryutaro Kira¹ (1.Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan, 2.Department of General Pediatrics and Interdiscplinary Medicine, 3.Department of Pediatrics, Kumamoto University, Kumamoto, Japan)

Yuki Kihara¹, YASUSHI ITO², KAORU ETO³, HIDETSUGU NAKATSUKASA¹, KAORUKO MOTOE¹, SATORU NAGATA¹ (1.Tokyo Women's Medical University Hospital, 2.Aiiku Hospital, 3.Saiseikai Kurihshi Hospital)

Yukio Sawaishi¹, Miyuki Toyono¹, Eiji Nanba², Naomicih Matsumoto³ (1.Akita Prefectural Center on Development and Disability, Akita, Japan, 2.Division of Functional Genomics, Research Center for Bioscience and Technology, Yonago, Japan, 3.Department of Human Genetics, Graduate School of Medicine, Yokohama, Japan)

Asako Arai, Naoto Iwanami, Daisuke Azuma, Tamotsu Matsunaga (Department of Pediatrics, Toda Chuo General Hospital, Saitama, Japan)

Koji Tominaga^1,2, RYOKO HAYASHI¹, MIKA HIROTSUNE¹, JUNPEI TANIGAWA¹, YOSHIKO IWATANI^1,2, KURIKO SHIMONO^1,2, SHIN NABATAME¹, NAOKI KAGAWA³, KAZUHIKO BESSHO¹, TADASHI KANAME⁴, KEIICHI OZONO¹ (1.Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Japan, 2.Division of Developmental Neuroscience, United Graduate School of Child Development, Osaka University, Suita, Japan, 3.Department of Neurosurgery, Graduate School of Medicine, Osaka University, Suita, Japan, 4.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan)

Christoph Schwering¹, Irene Slavc², Jessica L Cohen—Pfeffer³, Sridharan Gururangan⁴, Elaina Jurecki³, Jeanne Krauser⁴, Tom Lester³, Daniel Lim⁵, Marcos Maldaun⁶, Adam J Shaywitz³, Manfred Westphal¹ (University Medical Center Hamburg—Eppendorf, Hamburg, Germany¹, Medical University of Vienna, Vienna, Austria², BioMarin Pharmaceutical Inc., Novato, CA, USA³, Duke University Medical Center, Durham, NC, USA⁴, University of California, San Francisco, CA, USA⁵, IEP—Hospital Sirio-Libanes, Sao Paulo, Brazil⁶)