[P11] Gene abnormality

Thu. May 31, 2018 5:40 PM - 6:10 PM Poster (Convention Hall A)

Chair:Masaru Tatsuno, MD(Department of Pediatrics,Showa University School of Medicine)

+Add all to schedule

[P-064] A case of mild intellectual disability and epilepsy arising from a novel PPP2R1A mutation

Yoshihiro Watanabe¹, AZUSA IKEDA¹, HIKARI KABA¹, SAOKO TAKESHITA¹, MITSUKO NAKASHIMA^2,3, NAOMICHI MATSUMOTO³ (1.Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan, 2.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)

[P-065] Novel case of ZTTK syndrome including a case overlapping with inherited GPI deficiency

Junpei Tanigawa^1,2, NOBUHIKO OKAMOTO³, KOJI TOMINAGA^1,2,4, MASAHIRO KITAI⁵, SHIN NABATAME^1,2, SATOKO MIYATAKE⁶, NORIKO MIYAKE⁶, NAOMICHI MATSUMOTO⁶, TARHO KINOSHITA⁷, YOSHIKO MURAKAMI⁷, KEIICHI OZONO^1,2 (1.Department of Pediatrics, Graduate school of Medicine, Osaka Unjiversity, Suita, Osaka, Japan, 2.Epilepsy Center, Osaka University Hospital, Suita, Japan, 3.Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan, 4.Division of Developmental Neuroscience, United Graduate School of Child Development, Osaka University, Suita, Japan)

[P-066] A case of Okur Chung neurodevelopment syndrome

Kohei Haraguchi^1,2, Nanako Nishiguchi¹, Tastuharu Sato¹, Hiroyuki Moriuchi¹ (1.Pediatrics,Nagasaki University Hospital,Nagasaki,Japan, 2.Sasebo City General Hospital,Nagasaki,Japan)

[P-067] A case with intellectural disability possibly caused by NACC1 mutation

Motomasa Suzuki, YASUKO KOJIMA, MAHITO ATOBE, YUSUKE AOKI, KAZUYA ITOMI (Department of Pediatric Neurology, Aichi Children's Health and Medical Center, Aichi, Japan)

[P-068] Rett—like features and cortical visual impairment in a Japanese patient with HECW2 mutation

Haruhiko Nakamura¹, MITSUGU UEMATSU², YURIKA UEMATSU², YU ABE², WAKABA ENDO², ATSUO KIKUCHI², YUSUKE TAKEZAWA², KAZUHIRO HAGINOYA³, SHIGEO KURE² (1.The Third Department of Internal Medicine, University of Tohoku, Miyagi, Japan, 2.The Third Department of Internal Medicine, University of Tohoku, Miyagi, Japan, 3.Miyagi children's hospital, Miyagi, Japan)

[P-069] A case of creatine transporter deficiensy diagnosed by a family request

Anzu Noda¹, KOYAMA AKIKO¹, YUICHI ABE², HIROKO SHIMBO³, NORIKO AIDA⁴, TOMOHIDE GOTO⁵ (1.Department of Pediatrics, Saitama Citizen Medicalcenter, Saitama, Japan, 2.Department of Pediatrics, Saitama Medical University, Saitama, Japan, 3.Clinical Research Institude, Kanagawa Prefectural Children's Medical Center, Yokohama, Japan, 4.Department of radiology, Kanagawa Prefectural Children's Medical Center, Yokohama, Japan)