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De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy
Authors:Mitsuko Nakashima MD  PhD  Mitsuhiro Kato MD  PhD  Kazushi Aoto DDS  PhD  Masaaki Shiina MD  PhD  Hazrat Belal MS  Souichi Mukaida MD  PhD  Satoko Kumada MD  PhD  Atsushi Sato MD  PhD  Ayelet Zerem MD  PhD  Tally Lerman‐Sagie MD  Dorit Lev MD  PhD  Huey Yin Leong MD  Yoshinori Tsurusaki PhD  Takeshi Mizuguchi MD  PhD  Satoko Miyatake MD  PhD  Noriko Miyake MD  PhD  Kazuhiro Ogata MD  PhD  Hirotomo Saitsu MD  PhD  Naomichi Matsumoto MD  PhD
Institution:1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;2. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan;3. Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan;4. Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan;5. Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan;6. Department of Pediatric Neurology, National Hospital Organization Utano Hospital, Kyoto, Japan;7. Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan;8. Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan;9. Pediatric Neurology Unit, Metabolic‐Neurogenetic Clinic, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel‐Aviv University, Tel‐ Aviv, Israel;10. Institute of Medical Genetics, Metabolic‐Neurogenetic Clinic, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel‐Aviv University, Tel‐ Aviv;11. Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia
Abstract:
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