[P1] 遺伝・先天異常

[P1-7] A boy with SCN8A mutation presenting with congenital nephrotic syndrome and progressive brain calcification.

^○Yoshiyuki Hanaoka¹, Yuko Chiba¹, Hisamichi Kunisawa¹, Yusuke Ogane¹, Takahiro Hayashi¹, Mariko Sawada¹, Akihito Takahashi¹, Shinsuke Ninomiya², Hisato Suzuki^3,4, Mamiko Yamada⁴, Toshiki Takenouchi⁴, Kenjiro Kosaki⁴, Kenji Waki¹ (1.Department of Pediatrics, Kurashiki Central Hospital, Okayama, Japan, 2.Department of Clinical Genetics, Kurashiki Central Hospital, Okayama, Japan, 3.Institute of Medicine, University of Tsukuba, Ibaraki, Japan, 4.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)