[P8] てんかん

[P8-16] A Case of Aicardi-Goutieres syndrome type 5 with a novel SAMHD1 missense variant diagnosed by the IRUD

^○Tomoko Uchida¹, Tadashi Shiohama¹, Kazuyuki Meguro^2,3, Shoko Yoshii¹, Chihiro Saito¹, Sho Hagiwara¹, Tomohiko Ichikawa³, Hiromichi Hamada¹ (1.Department of Pediatrics, Graduate School of Medicine, Chiba University, 2.Department of Allergy and Clinical Immunology, Graduate School of Medicine, Chiba University, 3.Department of Clinical genetics, Chiba University hospital, Chiba, Japan)