Presentation Information
[O16-3]Developmental and epileptic encephalopathy caused by a novel ATP2B2 protein-truncating variant
○Hiroshi Matsumoto1,2, Kiyotaka Zaha2, Kenji Uematsu2, Mitsuko Nakashima3, Hirotomo Saitsu3, Takeshi Mizuguchi4, Naomichi Matsumoto4 (1.Department of Pediatrics, Saitama Medical University, Moroyama-machi, Japan, 2.Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan, 3.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 4.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)