[P8] 一般演題(ポスター)8 てんかん：診断・遺伝子 | The 67th Annual Meeting of the Japanese Society of Child Neurology

Session Details

General Poster Presentation

[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

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 Motojima^1,2, 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 Kamiya^1,2, Kyoko Takano², Daisuke Nakafuji³, Toshiki Takenouchi^4,5, 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)

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