Journal article

Development of a rapid functional assay that predicts GLUT1 disease severity

Sasha M Zaman, Saul A Mullen, Slave Petrovski, Snezana Maljevic, Elena Gazina, A Marie Phillips, Gabriel Davis Jones, Michael S Hildebrand, John Damiano, Stephane Auvin, Holger Lerche, Yvonne G Weber, Samuel F Berkovic, Ingrid E Scheffer, Christopher A Reid, Steven Petrou



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 ..

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Awarded by National Health and Medical Research Council (NHMRC)

Funding Acknowledgements

This work was supported by the National Health and Medical Research Council (NHMRC) Program Grant (10915693) to S.P., I.E.S., S.F.B., and C.A.R., Research Fellowship to S.P., a Postdoctoral Training Fellowship to S.A.M., and an Australian Postgraduate Award to S.M.Z.. C.A.R is supported by a Dowd Fellowship. The Florey Institute of Neuroscience and Mental Health is supported by Victorian State Government infrastructure funds.