[E5] English Session 5
genetic disorder

Fri. Jun 16, 2017 8:50 AM - 9:50 AM Room No.6 (10F Conference Room 1009)

Chair:Yoshiko Nomura（Yoshiko Nomura Neurological Clinic for Children, Tokyo, Japan）, Toshiyuki Yamamoto（Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan）

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[E-030] Saccadic eye movement compared to the scores of YGTSS—J, CY—BOCS, SCAS in Tourette Syndrome

^○Kyoko Hoshino¹, Hideki Fukuda¹, Yuri Nagao¹, Kazue Kimura¹, Masaharu Hayashi¹, Shin-ichi Tokushige^1,2, Yasuo Terao^1,3 (1.Neurological Clinic for Children,Tokyo,Japan, 2.Department of Neurology, The University of Tokyo, Tokyo, Japan, 3.Department of Cell-Physiology, Kyorin University, Tokyo, Japan)

[E-031] A boy with myoclonus dystonia syndrome diagnosed by whole exome sequencing

^○Akihiko Miyauchi¹, Ayumi Matsumoto¹, Masako Nagashima¹, Yukifumi Monden¹, Noriko Oguro², Haruo Shintaku³, Yuri Uchiyama⁴, Mitsuko Nakashima⁴, Naomichi Matsumoto⁴, Hitoshi Osaka¹, Takanori Yamagata¹ (1.Department of Pediatrics, Jichi Medical University, Tochigi, Japan, 2.Department of Pediatrics, Tochigi Rehabilitation Center, Tochigi, Japan, 3.Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan, 4.Department of Human Genetics, Yokohama City University Graduate School of Me dicine, Kanagawa, Japan)

[E-032] Management of chorea in GNAO1 mutations：topiramate as a first—line treatment

^○Saori Sakamoto¹, Yukifumi Monden^1,2, Ryoko Fukai^3,4, Noriko Miyake³, Hiroshi Saito¹, Masako Nagashima¹, Hitoshi Osaka¹, Naomichi Matsumoto³, Takanori Yamagata¹ (1.Department of Pediatrics, Jichi Medical University, Tochigi, Japan, 2.Department of Pediatrics, International University of Health and Welfare, Tochigi, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 4.Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan)

[E-033] SZT2 mutations cause a discernible disorder with developmental delay and dysmorphic corpus callosum

^○Yuji Nakamura¹, Yasuko Togawa², Yusuke Okuno³, Hideki Muramatsu³, Daisuke Ieda¹, Ikumi Hori¹, Yutaka Negishi¹, Ayako Hattori¹, Shinji Saitoh¹ (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 2.Department of Pediatrics, Toyohashi Municipal Hospital, Aichi, Japan, 3.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan)

[E-034] MicroRNA analysis in dermal fibroblasts derived from Gorlin syndrome patients

^○Tadashi Shiohama¹, Katsunori Fujii¹, Tomozumi Takatani¹, Toshiyuki Miyashita², Hajime Ikehara¹, Mayuko Fujita¹, Tomoyuki Fukuhara¹, Naoki Shimojo¹ (1.Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan, 2.Department of Molecular Genetics, Kitasato University School of Medicine, Kanagawa, Japan)

[E-035] Germline MTOR mutation in a boy with Smith—Kingsmore syndrome showing hepatomegaly and hypoglycemia

^○Akira Hojo¹, Yoshifusa Abe¹, Masaru Tatsuno¹, Tamae Kugai², Koichi Mizuguchi², Masaya Kubota³, Mitsuko Nakashima⁴, Naomichi Matsumoto⁴, Mitsuhiro Kato¹ (1.Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan, 2.Division of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan, 3.Division of Neurology, National Center for Child Health and Development, Tokyo, Japan, 4.Department of Human Genetics, Yokohama City University Graduate School of Medicine)