Presentation Information
[P1-12-17]A recurrent splice site DNM1 variant in a patient with severe developmental and epileptic encephalopathy
○Yasuhiro Kawai1, Koki Nagai1, Yu Tsuyusaki2, Ruriko Tachioka1, Tomoko Nishikawa1, Yumi Enomoto3, Takuya Naruto3, Yukiko Kuroda1, Kenji Kurosawa1 (1.Department of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan,2.Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan, 3.Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan)