GLUT1 deficiency: Retinal detrimental effects of gliovascular modulation

Most patients with glucose transporter type 1 (GLUT1) deficiency syndrome (G1D) experience anticonvulsant-refractory epilepsy and abnormal cognitive and motor development.1 Ninety percent of patients with G1D harbor a causative loss-of-function mutation in the SLC2A1 gene; in the others, brain fluorodeoxyglucose (FDG) PET can confirm the diagnosis. The authors acknowledge the collaboration of the patient described and her legally consenting family. The support of the Glucose Transporter Type 1 Deficiency Foundation and of the NIH (grant NS077015 to J.M.P.) is also acknowledged.