A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain

by Tamio Furuse, Hiroshi Mizuma, Yuuki Hirose, Tomoko Kushida, Ikuko Yamada, Ikuo Miura, Hiroshi Masuya, Hiromasa Funato, Masashi Yanagisawa, Hirotaka Onoe, Shigeharu Wakana
Published 2019-09-01

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

by Olimpia Musumeci, Edoardo Ferlazzo, Edoardo Ferlazzo, Edoardo Ferlazzo, Carmelo Rodolico, Antonio Gambardella, Antonio Gambardella, Monica Gagliardi, Umberto Aguglia, Umberto Aguglia, Umberto Aguglia, Antonio Toscano
Published 2020-06-01

Characterization of Speech and Language Phenotype in GLUT1DS

by Martina Paola Zanaboni, Ludovica Pasca, Barbara Valeria Villa, Antonella Faggio, Serena Grumi, Livio Provenzi, Costanza Varesio, Valentina De Giorgis
Published 2021-04-01

A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review

by Miaomiao Yu, Jing Miao, Yudan Lv, Xue Wang, Wuqiong Zhang, Na Shao, Hongmei Meng
Published 2021-01-01

Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome

by Sachie Nakamura, Hitoshi Osaka, Shin-ichi Muramatsu, Naomi Takino, Mika Ito, Shiho Aoki, Eriko F. Jimbo, Kuniko Shimazaki, Tatsushi Onaka, Sumio Ohtsuki, Tetsuya Terasaki, Takanori Yamagata
Published 2017-03-01

Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome

by Idil Hanci, Idil Hanci, Idil Hanci, Christoph Kamm, Marlieke Scholten, Marlieke Scholten, Marlieke Scholten, Marlieke Scholten, Lorenzo P. Roncoroni, Lorenzo P. Roncoroni, Lorenzo P. Roncoroni, Yvonne Weber, Yvonne Weber, Rejko Krüger, Rejko Krüger, Rejko Krüger, Rejko Krüger, Christian Plewnia, Christian Plewnia, Alireza Gharabaghi, Alireza Gharabaghi, Daniel Weiss, Daniel Weiss, Daniel Weiss
Published 2018-05-01