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

General Oral Presentation

[O26]一般演題(口演)26 遺伝・遺伝子異常③

Fri. Jun 6, 2025 4:40 PM - 5:40 PM JST
Fri. Jun 6, 2025 7:40 AM - 8:40 AM UTC
第7会場
座長：井上 健(国立精神・神経医療研究センターメディカルゲノムセンター),瀬戸 俊之(大阪公立大学大学院医学研究科臨床遺伝学)

[O26-01]A patient with Schinzel-Giedion syndrome suspected of Inherited GPI deficiency

○Michiko Makino1, Hitoshi Shimoyama1, Keiko Wada1, Takako Tamura1, Kuniko Uno1, Yumiko Ohno1, Junko Ohhinata1, Teruyuki Tanaka1, Keiko Akahoshi1, Masayuki Sasaki1, Yoshiko Murakami2, Eriko Koshimizu3, Satoko Miyatake3, Naomichi Matsumoto3 (1.Department of Pediatrics, Tokyo Children's Rehabilitation Hospital, Tokyo, Japan, 2.Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, 3.Department of Genetics, Graduate School of Medicine, Yokohama City University, Japan)

[O26-02]A novel molecular pathogenesis for Pelizaeus-Merzbacher disease: ER Ca depletion and impairment of ER-Golgi transport

○Ken Inoue1,2, Heng Li2, Reiko Mishima2, Yu-ichi Goto1 (1.Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Japan, 2.Dept. Biochemistry and Cellular Biology, National Center of Neurology and Psychiatry, Kodaira, Japan)

[O26-03]演題取り下げ

(1.Department of Pediatrics, Keio University School of Medicine, Tokyo, japan, 2.Center for Clinical Genetics, Keio University School of Medicine, Tokyo, japan, 3.Department of Pediatric Neurology, Okayama University Hospital, Okayama, Japan)

[O26-04]A case of 3 year old child with Leigh syndrome with ATP6 gene mutation.

○Yukie Tokioka1, Hiroki Tsuchiya1, Hiroki Kawai1, Hiromi Sumitomo1, Mari Akiyama1, Tomoyuki Akiyama1, Kei Murayama2, Takenouchi Toshiki1 (1.Department of Pediatric Neurology, University of Okayama, Okayama, Japan, 2.Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan)

[O26-05]A case report of siblings with congenital muscular dystrophy caused by a novel POMT1 variant

○Kentaro Okada1, Tohru Okanishi1, Ikko Ohshiro Ikko2, Taro Okuda1, Yoshihiko Saito3, Ichizo Nishino3, Hiroyuki Awano4, Yoshihiro Maegaki1 (1.Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan, 2.Department of Pediatrics, Gifu Municipal Hospital, Gihu, Japan, 3.Department of National institute of neuroscience, National center of neurology and psychiatry, Tokyo, Japan, 4.Department of Medical Genetics, Tottori University, Yonago, Japan)

[O26-06]A case of spastic paraplegia in a Japanese girl with a homozygous variant in the HPDL gene.

○Tadahiro Mitani, Shuichi Takanashi, Chika Watanabe, Miyuki Watanabe, Shiho Aoki, Hitoshi Osaka (Department of Pediatrics, Jichi Medical University, Tochigi, Japan)
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