[ISS-P] Poster

[P-10] De novo PHACTR1 mutations in West Syndrome and their pathophysiological effects

nanako hamada¹, Koh-ichi Nagata¹, Shunsuke Ogaya², Mitsuko Nakashima³, Hirotomo Saitsu⁴, Mitsuhiro Kato⁵, Naomichi Matsumoto³, Yuji Sugawara⁶, Shimpei Baba⁸, Kentaro Shirai⁷ (1.Department of Molecular Neurobiology, Institute for Developmental Research, Japan, 2.Department of Pediatric Neurology, Central Hospital, Aichi Human Service Center, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan, 4.Department of Biochemistry, Hamamatsu University School of Medicine, Japan, 5.epartment of Pediatrics, Showa University School of Medicine, Japan, 6.Department of Pediatrics, Soka Municipal Hospital, Japan, 7.Department of Pediatrics, Tsuchiura Kyodo Hospital, Japan, 8.Department of Child Neurology, Comprehensive Epilepsy Center, Seirei-Hamamatsu General Hospital, Japan)