[P8] てんかん

[P8-8] A case of a girl with CNKSR2 pathogenic variant with severe DEE-SWAS due to skewed X-chromosome inactivation.

^○Yu Katata^1,3, Yukimune Okubo², Haruhiko Nakamura³, Naoya Saijyo³, Jun Takayama^4,5,6, Shigeo Kure^1,3,4, Gen Tamiya^4,5,6, Atsuo Kikuch^3,4 (1.Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan, 2.Department of Pediatrics, Hachinohe City Hospital, Aomori, Japan, 3.Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan, 4.Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan, 5.Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan, 6.Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan)