[E9] English Session 9
tuberous sclerosis / epilepsy / headache

[E-052] EOEE and severe developmental delay with de novo double mutations in NF1 and MAGEL2

^○Satoshi Akamine¹, Noriaki Sagata², Yasunari Sakai¹, Takahiro Kato², Yuki Matsushita¹, Masafumi Sanefuji¹, Yoshito Ishizaki¹, Hiroyuki Torisu^{1, 3}, Hirotomo Saitsu⁴, Naomichi Matsumoto⁵, Shouichi Ohga¹ (Department of Pediatrics, University of Kyushu, Fukuoka, Japan¹, Department of Neuropsychiatry, University of Kyushu, Fukuoka, Japan², Section of Pediatrics, Department of Medicine, Fukuoka Dental College, Fukuoka, Japan³, Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan⁴, Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan⁵)