Fundação de Ciência e Tecnologia

Glucose Transporter Deficiency Syndrome Type 1 (Glut1‐ DS ): New Insights From a Brazilian Cohort of Patients

ABSTRACT Glucose transporter deficiency syndrome type 1 (Glut1‐DS) is a rare neurometabolic disorder caused by pathogenic variants in SLC2A1 , characterized by epilepsy, neurodevelopmental delay, movement disorders, dysarthria, intellectual disability, and postnatal microcephaly....