Session Details
[P8]一般演題(ポスター)8 てんかん:診断・遺伝子
Thu. Jun 5, 2025 1:40 PM - 2:30 PM JST
Thu. Jun 5, 2025 4:40 AM - 5:30 AM UTC
Thu. Jun 5, 2025 4:40 AM - 5:30 AM UTC
ポスター会場
[P8-01]A boy with severe mental retardation and drug-resistant epilepsy with a novel variant in the IRL2BPL gene
○Toshino Motojima1,2, Yuzuru Shinagawa2, Tokuyasu Arakawa2, Mari Hashimoto2, Tomomi Ogata2, Ayaka Ohno3, Eri Takeshita3, Fuyuki Miya4, Mitsuhiro Kato5, Takumi Takizawa2 (1.Department of pediatrics, Motojima General Hospital, Gunma, Japan, 2.Department of Pediatrics, University of Gunma, Gunma, Japan, 3.Department of childneurology, National Center of Neurology and Psychiatry, Tokyo, Japan, 4.Center for Medical genetics, University of Keio, Tokyo, Japan, 5.Department of Pediatrics, University of Showa, Tokyo, Japan)
[P8-02]A case of KBG syndrome complicated with acute encephalopathy
○Sachiko Tanifuji, Maya Asami, Kanako Mizuma, Manami Akasaka (Japan)
[P8-03]Clinical features of a family with a high incidence of epilepsy
○Wataru Ueno1, yukiko Osawa1, Nobuo Kamiya2, Toshimasa Obonai1 (1.Department of Pediatrics, Tokyo Metropolitan Tama-Hokubu Medical Center, Higashimurayama, Tokyo, Japan., 2.Department of Neurology, Tokyo Metropolitan Tama-Hokubu Medical Center, Higashimurayama, Tokyo, Japan.)
[P8-04]A case of early infantile developmental epileptic encephalopathy with gain-of-function mutations in the SCN1A gene
○Serina Majima1, Akiko Hiraiwa1, Tomomi Tanaka1, Kazushi Miya1, Chihaya Imai1, Yasuhiro Kawai2, Noriko Sumitomo2, Fuyuki Miya3, Mitsuhiro Kato4 (1.Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan, 2.Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan, 3.Center for medical genetics, Faculty of Medicine, University of Keio, Tokyo, Japan, 4.Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan)
[P8-05]A case of Childhood Absence Epilepsy evolving to Epilepsy with Eyelid Myoclonia
○Kohei Haraguchi, Risa Miyoshi, Asami Watanabe, Tatsuharu Sato, Hiroyuki Moriuchi (Department of Pediatrics, Nagasaki University Hospital)
[P8-06]A case of DEE due to an SCN2A missense variant presenting with punctate white matter lesions in the neonatal period.
○Makoto Nishioka1, Masaru Nasuno1, Nao Chiba1, Naoko Shiba1, Motoko Kamiya1,2, Kyoko Takano2, Daisuke Nakafuji3, Toshiki Takenouchi4,5, Tetsuhiro Fukuyama1 (1.Department of Pediatrics, University of Shinshu, Nagano, Japan, 2.Center for Gene Medicine, University of Shinshu, Nagano, Japan, 3.Center for Clinical Genetics, University of Keio, Tokyo, Japan, 4.Department of Pediatrics, University of Keio, Tokyo, Japan, 5.Department of Pediatric Developmental Pathology, Okayama, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Japan)