[E3] English Session 3
遺伝

[E-013] Specific mutations in ATP1A3 cause distinct phenotypes：Analysis of cases with CAPOS, RECA, and AHC

Yuji Nakamura¹, Ayako Hattori¹, Masataka Fukuoka², Mitsuko Nakashima³, Atsushi Ishii⁴, Daisuke Ieda¹, Ikumi Hori¹, Yutaka Negishi¹, Naoki Ando^{1, 5}, Ichiro Kuki², Naomichi Matsumoto³, Shinichi Hirose⁴, Shinji Saitoh¹ (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan¹, Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan², Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan³, Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan⁴, Josai Kids Clinic, Nagoya, Japan⁵)