Session Details
[P25]一般演題(ポスター)25 てんかん:診断・遺伝子
Fri. Jun 6, 2025 4:40 PM - 5:30 PM JST
Fri. Jun 6, 2025 7:40 AM - 8:30 AM UTC
Fri. Jun 6, 2025 7:40 AM - 8:30 AM UTC
ポスター会場
[P25-01]A case of pathological variant in DYRK1A with VPA effective for epileptic seizures
○Chizuru Ikeda1, Rika Tomoeda1, Maki Oyama1, Hirofumi Kurata1, Ken Momosaki1, Hoseki Imamura1, Yuuki Hitomi2, Noriko Miyake2 (1.Department of Pediatrics, Kumamoto Saishun medical Center, Kumamoto, Japan, 2.Department of Human Genetics, National Center for Global Health and medicine Research Institute, Tokyo, Japan)
[P25-02]A case of infantile epileptic spasm syndrome with partial deletion of chromosome 2
○Yoshiteru Azuma1,2, Mizuki Nishida1, Shingo Numoto2, Hideyuki Iwayama1, Hirokazu Kurahashi1, Akihisa Okumura1 (1.Department of Pediatrics, Aichi Medical University, Nagakute, Japan, 2.Seirei Hamamatsu General Hospital, Hamamatsu, Japan.)
[P25-03]A case of a SEMA6B gene variant presenting with the phenotype of progressive myoclonus ataxia
○Naoko Shiba1,2, Makoto Nishioka1, Masaru Nasuno1, Kyoko Takano3, Takaya Iida4, Kumiko Yanagi4, Tadashi Kaname4, Tetsuhiro Fukuyama1 (1.Department of Pediatrics, Shinshu University, Matsumoto, Japan, 2.Regenerative Science and Medicine, Shinshu University, Matsumoto, Japan, 3.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 4.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan)
[P25-04]Two cases of epilepsy with myoclonic absence.
○Asami Watanabe, Risa Miyoshi, Kouhei Haraguchi, Tatsuharu Sato (Department of Pediatrics, Nagasaki University Hospital)
[P25-05]Coffin-Siris Syndrome with intractable epilepsy
○Yayoi Shide1, Naohiro Yamamoto1,2, Takeshi Inoue2, Masamune Sakamoto3, Naomichi Matsumoto3, Sayaka Yoshida1 (1.Division of Pediatrics,Nara Prefecture General Medical Center, Nara, Japan, 2.Epilepsy center of child and adolescent,Division of pediatric neurology,Osaka City General Hospital,Osaka,Japan, 3.Department of Human Genetics, Yokohama City University, Kanagawa, Japan)
[P25-06]A case of a girl with SCN2A-related epilepsy without apparent developmental delay
○Yoshitaka Mitsui1, Hitoshi Sato1, Azusa kobayashi1, Reiko Fuzisawa1, Yo Niida2, Yasuhiro Ikawa1 (1.uthinada & japan, 2.uthinada & japan)