[P18] Epilepsy/Convulsion Diagnosis/Gene

[P-103] A male case with CDKL5—associated encephalopathy manifesting transient methylmalonic acidemia

Satoshi Akamine¹, Yoshito Ishizaki¹, Yasunari Sakai¹, Hiroyuki Torisu², Ryoko Fukai³, Noriko Miyake³, Kazuhiro Ohkubo¹, Masafumi Sanefuji¹, Ayumi Sakata⁴, Masahiko Kimura⁵, Seiji Yamaguchi⁵, Osamu Sakamoto⁶, Hirotomo Saitsu⁷, Naomichi Matsumoto³, Shouichi Ohga¹ (1.Department of Pedeatrics, University of Kyushu, Fukuoka, Japan, 2.Section of Pediatrics, Department of Medicine, Fukuoka Dental College, Fukuo ka, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Me dicine, Yokohama, Japan, 4.Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan)