
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes
Castellotti, Barbara, Ragona, Francesca, Freri, Elena, Solazzi, Roberta, Ciardullo, Stefano, Tricomi, Giovanni, Venerando, Anna, Salis, Barbara, Canafoglia, Laura, Villani, Flavio, Franceschetti, SilvLangue:
english
Journal:
Journal of Neurology
DOI:
10.1007/s00415-019-09280-6
Date:
March, 2019
Fichier:
PDF, 791 KB
english, 2019