The 67th Annual Meeting of the Japanese Society of Child Neurology
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Session Details

General Oral Presentation

[O19]一般演題(口演)19 てんかん：診断・遺伝子①

Fri. Jun 6, 2025 4:40 PM - 5:40 PM JST
Fri. Jun 6, 2025 7:40 AM - 8:40 AM UTC
第4会場
座長：千代延 友裕(京都府立医科大学附属病院遺伝子診療部),中村 和幸(山形大学医学部小児科学講座)

[O19-01]Mice model replicating VUS identified a Tenm4 variant inhibits oligodendrocyte differentiation causing epilepsy

○Shin Hayashi1, Yasuyo Suzuki1, Kenichiro Yamada1, Daniela Tiaki Uehara2, Yasushi Enokido3, Hiroaki Miyahara4, Jun-ichi Takanashi5, Johji Inazawa2,6 (1.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, 2.Department of Molecular Cytogenetics Medical Research Institute, Tokyo Medical and Dental University, 3.Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, 4.The Institute for Medical Science of Aging, Aichi Medical University, 5.Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 6.Institute of Science Tokyo)

[O19-02]An adult case of CAD deficiency presenting with anemia, status epilepticus, and regression during adolescence

○Yasuko Nakamura1, Harumi Saijo1, Tatsuya Yamashita1, Takanori Ezoe1, Katsuhito Araki1, Masamune Sakamoto2, Naomichi Matsumoto2 (1.Tokyo Metropolitan Higashiyamato Medical Center for the Severely Disabled, Tokyo, Japan, 2.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)

[O19-03]Clinical features of epilepsy in SCN2A-DEE

○Mitsuhiro Miyashita1, Shino Shimada2,3, Manami Yabe1, Tomona Yabe1, Akihiro Iguchi1, Satoshi Mizutani1, Yu Tsuyusaki1, Tokito Yamaguchi1, Hideyuki Ohtani1, Katsumi Imai1 (1.Department of Pediatrics, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan, 2.Department of Pediatrics, Juntendo University Shizuoka Hospital, Shizuoka, Japan, 3.Department of Clinical Genetics, Juntendo University Graduate School of Medicine, Tokyo, Japan)

[O19-04]A case of congenital brain tumor with cortical dysplasia presenting with various seizure types.

○Hiroki Sobajima, Noriko Nishikura, Yasuo Kitagishi, Yuka Nishizawa, Yoshihiro Maruo (Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan)

[O19-05]Clinical manifestations in four children with CDKL5 deficiency disorder

○Tomohiko Nakata1, Ayano Yanagisawa1, Misa Hashimoto1, Misae Yamada1, Hajime Narita1, Takamasa Mitsumatsu1, Anna Shiraki1, Yuki Maki2, Yuji Ito1, Hiroyuki Yamamoto1, Satoru Kobayashi3, Jun Natsume1,4, Hiroyuki Kidokoro1 (1.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 2.Department of Pediatrics, TOYOTA Memorial Hospital, Toyota, Japan, 3.Department of Pediatrics, Nagoya City University West Medical Center, Nagoya, Japan, 4.Department of Developmental Disability Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan)

[O19-06]A case with like acute encephalopathy associated with the SCN8A variant

○Kanako Maizuru1, Ayuko Usami1, Satoshi Kajimoto2, Naoko Yano2, Takeshi Yoshida2 (1.Tenri Hospital, Japan, 2.Kyoto University Hospital)
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