セッション詳細
[IO1]International Session（Platform Presentation）1
2026年6月5日(金) 9:10 〜 10:10
第5会場
[IO1-01]Coffin-Siris Syndrome with a de Novo ARID1B nonsense variant and autism in an Extremely Low Birth Weight Infant
Emi Yoshida1, Yoichiro Kawasaki2, Ryojun Takeda3, Kyoko Takano4, Tomomi Yamaguchi4, Kazuhiko Nakabayashi5, Takako Takano1,5 (1.Department of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Children with Developmental Disabilities, Tokyo, Japan, 2.Departmentof Pediatrics, Hokushin General Hospital, Nagano, Japan, 3.Department of Medical Genetics, Nagano Children's Hospital, Azumino, Japan, 4.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 5.Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan)
[IO1-02]In-vivo evidence of the association between neuronal conduction velocity and the development of myelination in humans.
Ono Tomonori1,2, Honda Ryoko1,3, Nishiguchi Nanako1,3, Ikeda Noriko1,3, Sato Kazuaki1,4 (1.Epilepsy Center, NHO Nagasaki Medical Center, Omura, Nagasaki, Japan, 2.Department of Neurosurgery, NHO Nagasaki Medical Center, Omura, Nagasaki, Japan, 3.Department of Pediatrics, NHO Nagasaki Medical Center, Omura, Nagasaki, Japan, 4.Department of Neurology, NHO Nagasaki Medical Center, Omura, Nagasaki, Japan)
[IO1-03]A novel gain-of-function variant in MYCN causing megalencephaly-polydactyly syndrome
Ishioka Risako1, Nishio Yosuke1,2,3,4, Kram David5, Fujimoto Masanori1, Ieda Daisuke1, Negishi Yutaka1, Saitoh Shinji1 (1.Department of Pediatrics and Neonatology, Nagoya City University, Graduate school of Medical Sciences, Japan, 2.Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan., 3.Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan, 4.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan., 5.Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, USA)
[IO1-04]Association between the home environment at the 4-month health checkup and infant spontaneous movements.
Kobayashi Osamu, Maeda Tomoki, Oguri Saori, Kawano Nanae, Okawa Yuko (Department of Pediatrics, Oita University Faculty of Medicine, Japan)
[IO1-05]AP4S1 associated hereditary spastic paraplegia (HSP52) : the first case in Japan
Hoshino Kyoko1, Izumi Genkichi1, Kumiko Yanagi2, Tadashi Kaname3, Okamoto Nobuhiko4 (1.Minami Wakayama Medical Center,Wakayama,Japan, 2.Department of Pediatric Endocrinology, Metabolism and Nephrology, Osaka City General Hospital,Osaka,Japan, 3.Department of Genome Medicine,National Center for Child Health and Development ,Tokyo,Japan, 4.Department of Medical Genetics,Osaka Women's and Children's Hospital,Osaka,Japan.)