[O17] Oral Presentation
teratology 3 -case report-

Fri. Jun 16, 2017 4:20 PM - 5:30 PM Room No.6 (10F Conference Room 1009)

Chair:Shinji Saitoh(Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan), Shinsuke Ninomiya(Department of Clinical Genetics, Kurashiki Central Hospital, Okayama, Japan)

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[O-097] Joubert syndrome and related disorders with congenital oculomotor apraxia and NPHP1 gene deletion

^○Nahoko Katayama¹, Ryosuke Urabe¹, Tetsuharu Kamioka¹, Yu Kakimoto¹, Go Takei¹, Hiroshi Terashima¹, Masaya Kubota¹, Rika Kosaki², Akira Oka³ (1.Division of Neurology, National Center for Child Health and Development, Tokyo, Japan, 2.Division of Medical Genetics. National Center for Child Health and Development, Tokyo, Japan, 3.Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan)

[O-098] A novel SLC1A3 gene mutation in a case of episodic ataxia type 6.

^○Aya Iwata¹, Hiroyuki Nigami¹, Kazuhiro Iwama², Tsuyoshi Mizuguchi², Naomichi Matsumoto² (1.Nishikobe medical center,Kobe-shi, Japan, 2.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama-shi, japan)

[O-099] A case of FOXG1 gene deletion with postnatal microcephaly, epilepsy and movement disorder

^○Wakaba Endo, Yusuke Takezawa, Yukimune Okubo, Takehiko Inui, Sato Suzuki, Takuya Miyabayashi, Noriko Togashi, Kazuhiro Haginoya (Miyagi Children's Hospital, Sendai, Japan)

[O-100] Two siblings case of paroxysmal kinesigenic dyskinesia with a novel truncation mutation of PRRT2

^○Makoto Kita¹, Yasuhiro Kwata², Nagako Murase², Yuichi Akiyama¹, Takeshi Usui³ (1.National Hospital Organization Kyoto Medical Center, Department of Pediatrics, Kyoto, Japan, 2.National Hospital Organization Kyoto Medical Center, Department of Neurology, Kyoto, Japan, 3.Shizuoka General Hospital, Department of Medical Genetics, Shzuoka, Japan)

[O-101] A case of siblings with early infantile epilepsy due to hemiplegic PRRT2 gene mutation.

^○Hikari Kaba¹, Saoko Takeshita¹, Yoshihiro Watanabe¹, Hirotaka Motoi¹, Yu Fujiwara¹, Naomichi Matsumoto², Mitsuko Nakashima² (1.Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan, 2.Department of Human Genetics, Yokohama City University Graduate School of Medecine, Yokohama, Japan)

[O-102] Progressive encephalocrastic changes resembling hydrancephaly in COL4A1-related disorder

^○Kenichiro Tsunematsu¹, Toshiki Takenouchi^2,3, Hirhoshi Ozawa⁴, Kenjiro Kosaki², Takao Takahashi³ (1.Department of Pediatrics, Hino Municipal Hospital, Tokyo, Japan, 2.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 3.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 4.Department of Child Neurology, Shimada Rehabilitation Center Hachioji, Tokyo, Japan)

[O-103] TOE1 gene mutation cause pontocerebellar hypoplasia and disorders of sex development

^○Tomomi Ogata¹, Kazuhiro Muramatsu¹, Noriko Sawaura¹, Eriko Suzuki¹, Hirokazu Arakawa¹, Hirotomo Saitsu², Naomichi Matsumoto³ (1.Department of Pediatrics,Gunma university Graduate School of Medicine,Maebashi, Japan, 2.Department of Biochemistry, Hamamatsu University School of medicine, Hamamatsu, Japan, 3.Department of Biochemistry,Yokohama City University Graduate School of Medicine, Yokohama,Japan)