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De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy |
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| Authors: | Yasunari Sakai Ryoko Fukai Yuki Matsushita Noriko Miyake Satoshi Akamine Michiko Torio Momoko Sasazuki Yoshito Ishizaki Masafumi Sanefuji Hiroyuki Torisu Chad A Shaw Naomichi Matsumoto Toshiro Hara |
| Affiliation: | 1. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;2. Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, Japan;3. Section of Pediatrics, Department of Medicine, Fukuoka Dental College, Fukuoka, Japan;4. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA |
| Abstract: | |
| Keywords: | Epileptic encephalopathy developmental delay whole‐exome sequencing (WES) tripartite motif containing 8 (TRIM8) |