Presentation Information
[OE3-5]A novel de novo variant in KCNH5 in a patient with refractory epileptic encephalopathy
○Akihiko Mitsutake1,2, Takashi Matsukawa1, Hiroyuki Ishiura1, Jun Mitsui3, Hiroaki Harada4, Keishi Fujio4, Jun Fujishiro5, Harushi Mori6, Shinichi Morishita7, Shoji Tsuji8, Tatsushi Toda1 (1.Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 2.Department of Neurology, International University of Health and Welfare Mita Hospital, Tokyo, Japan, 3.Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 4.Department of Rheumatology and Allergy, The University of Tokyo Hospital, Tokyo, Japan, 5.Department of Pediatric Surgery, The University of Tokyo Hospital, Tokyo, Japan, 6.Department of Radiology, School of Medicine, Jichi Medical University, Tochigi, Japan, 7.Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan, 8.Institute of Medical Genomics, International University of Health and Welfare, Narita, Japan)