Publications by authors named "Sasha M Zaman"

Objective: To examine the genotype to phenotype connection in glucose transporter type 1 (GLUT1) deficiency and whether a simple functional assay can predict disease outcome from genetic sequence alone.

Methods: GLUT1 deficiency, due to mutations in , causes a wide range of epilepsies. One possible mechanism for this is variable impact of mutations on GLUT1 function.

View Article and Find Full Text PDF