The 60th Annual Meeting of the Japanese Society of Child Neurology

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Poster Presentation

Epilepsy/Convulsion Diagnosis/Gene

[P17] Epilepsy/Convulsion Diagnosis/Gene

Thu. May 31, 2018 5:40 PM - 6:05 PM Poster (Convention Hall A)

Chair:Takashi SHIIHARA, MD, PhD(Department of Neurology, Gunma Children's Medical Center)

[P-096] Novel SMC1A mutation in a case with seizures in cluster and developmental disorder

Hiroe Ueno1, HIDEKAZU TACHIBANA1, HITOSHI KASHIKI1, TAKUMI OKADA1, MAMI FUKUMA1, TOMOYUKI SHIMAZU1, CHIZURU IKEDA1, HOSEKI IMAMURA1, MEGUMI HIRATA2, TAKESHI MIZUGUCHI3, NAOMICHI MATSUMOTO3, MITSUHIRO KATO4 (1.Department of Pediatrics, National Hospital Organizarion, Kumamoto Saisyunso National Hospital, Kumamoto, Japan, 2.Kumamoto Prefectual Rehabilitation Center for Children with Disabilities, Kumamoto, Japan, 3.Yokohama City University Graduate School of Medicine, Kanagawa, Japan, 4.Department of Pediatric, Showa University School of Medicine, Tokyo, Japan)

[P-097] 5q14.2—q15 triplication case: developmental delay, microcephaly, repetitive movements and epilepsy

Hiroko Matsushita1, Sozo Okano1, Katsumi Hayakawa2, Soichi Mukaida3, Kazuhiro Shiraishi3, Mitsuko Nakashima4, Naomichi Matsusmoto4, Mitsuhiro Kato5 (1.Kyoto City Hospital, Kyoto, Japan, 2.Kyoto City Hospital, Kyoto, Japan, 3.National Hospital Organization Utano Hospital, Kyoto, Japan, 4.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)