Session Details

[O9]一般演題(口演)9 遺伝・遺伝子異常①

Thu. Jun 5, 2025 1:35 PM - 2:35 PM JST
Thu. Jun 5, 2025 4:35 AM - 5:35 AM UTC
第6会場
座長:黒澤 健司(国立成育医療研究センター遺伝診療センター),池田 俊郎(まつおか小児科・いけだ小児神経内科小児科)

[O9-01]Investigating the utility of serum NfL as a biomarker for macrocephalic type with subcortical cysts

Rina Shimomura1,2, Yuta Komoike3, Keiko Yamamoto Shimojima4, Yoko Shirai5, Keiko Ishigaki2, Kenichiro Miura5, Satoru Nagata2, Toshiyuki Yamamoto1,4 (1.Department of Genetic Medicine, Graduate School of Advanced Biomedical Sciences,Tokyo Women's Medical University,Tokyo,Japan, 2.Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan, 3.Department of Health Sciences, School of Public Health, Faculty of Medicine, Tokyo Women's Medical University, Tokyo, Japan, 4.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 5.Department of Nephropediatrics, Tokyo Women's Medical University, Tokyo, Japan)

[O9-02]A female individual of L1 syndrome with a novel splice acceptor site variant in the L1CAM gene

Megumi Yonekawa1, kyoko Takano4,5, Tomomi Yamaguchi4,5,6, Tomoki Kosho4,5,6, Takaya Iida3, Kumiko Yanagi3, Tadashi Kaname3, Machiko Hosoya2, Tetsuhiro Fukuyama1 (1.Department of Pediatrics, Shinshu University school of medicine , Matsumoto, Japan, 2.Department of Pediatrics, Saku Central Hospital, Saku, Japan, 3.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 4.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 5.Department of Medical genetics, Shinshu Universitiy school of Medicine, Matsumoto, Japan, 6.Division of Clinical Sequencing, Shinshu Universitiy school of Medicine, Matsumoto, Japan)

[O9-03]Exon Skipping for FCMD with deep intronic variant by SH4.5 Chimeric RNA

Mariko Taniguchi-Ikeda1, Shinichi Nakagawa2, Rei Yoshimoto3 (1.Fujita Health University Hospital, 2.Hokkaido University, 3.Setsunan University)

[O9-04]The characteristics of brain image findings in two cases with heterozygous FAR1 variant

Ayaka Ohno1,2, Atsushi Arai1, Noriko Sato3, Takuya Hiraide4, Taijyu Hayashi4,5, Mitsuko Nakashima5, Hirotomo Saitsu5, Nobuyuki Shimozawa6, Mitsuhiro Kato7,8, Eri Takeshita1, Eiji Nakagawa1,9, Yuko Motohashi1, Hirofumi Komaki1,10 (1.Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan, 2.Department of Pediatrics, University of Hiroshima, Hiroshima, Japan, 3.Department of Radiology, National Center of Neurology and Psychiatry, Tokyo, Japan, 4.Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan, 5.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 6.Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan, 7.Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan, 8.Epilepsy Medical Center, Showa University Hospital, Tokyo, Japan, 9.Departments of Epileptology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan, 10.Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan)

[O9-05]A case of Episodic Ataxia type2 treated with Acetazolamide: comparison before and after drug administration

Tomoshiro Ito, Eriko Kudo, Takeshi Yamazaki, Kinnya Hatakeyama, Hitomi Sano (Department of Pediatrics, Sapporo city general hospital, Sapporo, Japan)

[O9-06]A study of Rett Syndrome Behaviour Questionnaire(RSBQ)in patients with Rett syndrome

Miharu Sato1, Hayato Yamaki1, Aiko Isooka2, Yukihiro Akita1, Gou Kawano1, Eshima Nobuoki3, Toyozirou Matsuishi4 (1.kurume,Fukuoka,Japan, 2.Fukuoka,Japan, 3.Fukuoka,Japan, 4.Fukuoka,Japan)