[E4] English Session 4
Congenital abnormality

[E-019] The effect of missense mutation site on the phenotype of glucose transporter—1 deficiency syndrome.

Shin Nabatame^{1, 2, 3}, Hidehito Kondo^{1, 2}, Ryoko Hayashi^{1, 2}, Mika Hirotsune^{1, 2}, Junpei Tanigawa^{1, 2}, Yoshiko Iwatani^{1, 2, 3}, Koji Tominaga^{1, 2, 3}, Kuriko Shimono^{1, 2, 3}, Keiichi Ozono^{1, 2} (Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Japan¹, Epilepsy Center, Osaka University Hospital, Suita, Japan², Division of Developmental Neuroscience, United Graduate School of Child Development, Osaka University, Suita, Japan³)