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

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English Session

Hereditary disorder

[E3] English Session 3
Hereditary disorder

Fri. Jun 1, 2018 9:50 AM - 10:50 AM Room 8 (1F 103)

Chair:Mitsuhiro Kato（ Department of Pediatrics, Showa University School of Medicine,　Tokyo, Japan）,　Toshiyuki Yamamoto（ Institute of Medical Genetics, Tokyo Womens Medical University,　Tokyo, Japan）

[E-011] HECW2 mutation causes peculiar periodic attacks of paralysis, intellectual disability and hypotonia

Kazuyuki Nakamura1, Mitsuhiro Kato1, 2, Takahiro Abiko1, Takashi Kanbayashi3, Mitsuko Nakashima4, 5, Hirotomo Saitsu4, 5, Naomichi Matsumoto5 (Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan1, Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan2, Department of Psychiatry, Akita University Graduate School of Medicine, Akita, Japan3, Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan4, Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan5)

[E-012] A sporadic case of CAPOS syndrome

Hirofumi Kashii1, 2, Itaru Hayakawa2, Hiroshi Terashima2, Rika Kosaki3, Kenjiro Kosaki4, Hiroshi Watanabe1, Masaya Kubota2 (Department of Pediatrics, Teikyo University Hospital, Mizonokuchi, Kawasaki, Japan1, Division of Neurology, National Center for Child Health and Development, Tokyo, Japan2, Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan3, Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan4)

[E-013] Specific mutations in ATP1A3 cause distinct phenotypes：Analysis of cases with CAPOS, RECA, and AHC

Yuji Nakamura1, Ayako Hattori1, Masataka Fukuoka2, Mitsuko Nakashima3, Atsushi Ishii4, Daisuke Ieda1, Ikumi Hori1, Yutaka Negishi1, Naoki Ando1, 5, Ichiro Kuki2, Naomichi Matsumoto3, Shinichi Hirose4, Shinji Saitoh1 (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan1, Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan2, Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan3, Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan4, Josai Kids Clinic, Nagoya, Japan5)

[E-014] Intra—cellular localization to validate pathogenicity for genetic diseases

Takeshi Kouga1, Hitoshi Osaka1, Chihiro Ohba2, Eriko Jimbo1, Takanori Yamagata1, Hirotomo Saitsu3, Naomichi Matsumoto2 (Department of Pediatrics, Jichi Medical University, Tochigi, Japan1, Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan2, Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan3)

[E-015] Paroxysmal dyskinetic disorders diagnosed by comprehensive genetic analysis.

Naoko Ishihara1, Misa Miyake1, Yoshiki Kawamura1, Hidehito Inagaki2, Takema Kato2, Makiko Tsutsumi2, Tadayoshi Hata3, Tetsushi Yoshikawa1, Hiroki Kurahashi2 (Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan1, Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan2, Faculty of Medical Technology, Fujita Health University School of Health Sciences, Toyoake, Japan3)

[E-016] Utility of single—fiber electromyography in patients with CACNA1A mutation

Ayaka Hirasawa1, Akihiko Ishiyama1, Eri Takeshita1, Yuko Shimizu—motohashi1, Takashi Saito1, Hirofumi Komaki1, Eiji Nakagawa1, Kenji Sugai1, Shota Yuasa2, Kohei Hamanaka3, Satoko Miyatake3, Naomichi Matsumoto3, Masayuki Sasaki1 (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry（NCNP）, Tokyo, Japan1, Department of Pediatrics, Kameda Medical Center, Chiba, Japan2, Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan3)