Childhood-Onset Refractory Absence Epilepsy as a Presentation of Glucose Transporter 1 Deficiency Syndrome Type 2: A Case Report With a Diagnostic Challenge
Published online on July 24, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
Glucose transporter 1 (GLUT1) deficiency syndrome is a rare metabolic disorder caused by mutations in theSLC2A1gene resulting in impaired glucose transport through the blood-brain barrier. The “classic” phenotype in children includes early-onset drug-...
Glucose transporter 1 (GLUT1) deficiency syndrome is a rare metabolic disorder caused by mutations in theSLC2A1gene resulting in impaired glucose transport through the blood-brain barrier. The “classic” phenotype in children includes early-onset drug-...