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J-GLOBAL ID：201902219315566720   Reference number：19S1366727

Phenotypic spectrum of GNAO1 variants: Epileptic encephalopathy to involuntary movements with severe developmental delay

Author (24)： Saitsu, Hirotomo (Department of Human Genetics, Yokohama City University, Graduate School of Medicine) ,  Fukai, Ryoko (Department of Human Genetics, Yokohama City University, Graduate School of Medicine) ,  Fukai, Ryoko (Department of Neurology and Stroke Medicine, Yokohama City University, Graduate School of Medicine) ,  Tsurusaki, Yoshinori (Department of Human Genetics, Yokohama City University, Graduate School of Medicine) ,  Nakashima, Mitsuko (Department of Human Genetics, Yokohama City University, Graduate School of Medicine) ,  Miyake, Noriko (Department of Human Genetics, Yokohama City University, Graduate School of Medicine) ,  Matsumoto, Naomichi (Department of Human Genetics, Yokohama City University, Graduate School of Medicine) ,  Ben-Zeev, Bruria (Edmond and Lily Safra Children's Hospital, Sheba Medical Center) ,  Ben-Zeev, Bruria (Sackler School of Medicine, Tel Aviv University) ,  Tziperman, Barak (Edmond and Lily Safra Children's Hospital, Sheba Medical Center) ,  Sakai, Yasunari (Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University) ,  Torio, Michiko (Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University) ,  Akamine, Satoshi (Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University) ,  Mimaki, Masakazu (Department of Pediatrics, University of Tokyo) ,  Takahashi, Nagahisa (Department of Pediatrics, University of Tokyo) ,  Okamoto, Nobuhiko (Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health) ,  Suzuki, Yasuhiro (Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health) ,  Monden, Yukifumi (Department of Pediatrics, Jichi Medical University) ,  Saito, Hiroshi (Department of Pediatrics, Jichi Medical University) ,  Osaka, Hitoshi (Department of Pediatrics, Jichi Medical University) ,  Yamagata, Takanori (Department of Pediatrics, Jichi Medical University) ,  Nakamura, Kazuyuki (Department of Pediatrics, Yamagata University, Faculty of Medicine) ,  Shiina, Masaaki (Department of Biochemistry, Yokohama City University, Graduate School of Medicine) ,  Ogata, Kazuhiro (Department of Biochemistry, Yokohama City University, Graduate School of Medicine)
Material： European Journal of Human Genetics
Volume： 24  Issue： 1  Page： 129-134  Publication year： 2016 
JST Material Number： SCOPUS  ISSN： 1018-4813  CODEN： EJHGE 
Country of issue： United Kingdom (GBR)  Language： English (EN)