Development of a rapid functional assay that predicts GLUT1 disease severity.

ABSTRACT:

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 SLC2A1, causes a wide range of epilepsies. One possible mechanism for this is variable impact of mutations on GLUT1 function. To test this, we measured glucose transport by GLUT1 variants identified in population controls and patients with mild to severe epilepsies. Controls were reference sequence from the NCBI and 4 population missense variants chosen from public reference control databases. Nine variants associated with epilepsies or movement disorders, with normal intellect in all individuals, formed the mild group. The

SUBMITTER: Zaman SM 

PROVIDER: S-EPMC6290489 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature