[E2] English Session 2
優秀English Session賞1

[E-012] Clinical, genetic, and biochemical analyses for PI3K-AKT-mTOR pathway-associated megalencephaly

Ikumi Hori¹, Fuyuki Miya^2,3, Yuji Nakamura¹, Daisuke Ieda¹, Yutaka Negishi⁴, Ayako Hattori¹, Tatsuhiko Tsunoda^2,3, Yonehiro Kanemura^5,6, Kenjiro Kosaki⁷, Shinji Saitoh¹ (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 2.Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan, 3.Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, 4.Gifu Prefectural Tajimi Hospital, Tajimi, Japan, 5.Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan, 6.Department of Neurosurgery, Osaka National Hospital, National Hospital Organ ization, Osaka, Japan, 7.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)