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Zaman SM, Mullen SA, Petrovski S, et al. Development of a rapid functional assay that predicts GLUT1 disease severity. Neurol Genet. 2018;4(6):e297doi: 10.1212/NXG.0000000000000297.
Zaman, S. M., Mullen, S. A., Petrovski, S., Maljevic, S., Gazina, E. V., Phillips, A. M., Jones, G. D., Hildebrand, M. S., Damiano, J., Auvin, S., Lerche, H., Weber, Y. G., Berkovic, S. F., Scheffer, I. E., Reid, C. A., & Petrou, S. (2018). Development of a rapid functional assay that predicts GLUT1 disease severity. Neurology. Genetics, 4(6), e297. https://doi.org/10.1212/NXG.0000000000000297
Zaman, Sasha M, et al. "Development of a rapid functional assay that predicts GLUT1 disease severity." Neurology. Genetics vol. 4,6 (2018): e297. doi: https://doi.org/10.1212/NXG.0000000000000297
Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S. Development of a rapid functional assay that predicts GLUT1 disease severity. Neurol Genet. 2018 Dec 06;4(6):e297. doi: 10.1212/NXG.0000000000000297. eCollection 2018 Dec. PMID: 30588498; PMCID: PMC6290489.
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Neurol Genet. 2018 Dec 06;4(6):e297. doi: 10.1212/NXG.0000000000000297. eCollection 2018 Dec.

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

Neurology. Genetics

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

Affiliations

  1. Florey Institute of Neuroscience and Mental Health (S.M.Z., S.A.M., S.M., E.V.G., A.M.P., G.D.J., I.E.S., C.A.R., S. Petrou.); Department of Medicine (RMH) University of Melbourne (S.M.Z., S. Petrovski, M.S.H., J.D., S. Petrou); Department of Medicine (Austin Health) (M.S.H., J.D., S.F.B., I.E.S.), University of Melbourne, Heidelberg; Department of Neurology and Epileptology (H.L., Y.G.W.), Hertie Institute for Clinical Brain Research, University of Tübingen; School of Biosciences (A.M.P.), University of Melbourne, Parkville, Australia; APHP (S.A.), Hôpital Robert Debré, Service de Neurologie Pédiatrique; Univ Paris Diderot (S.A.), Sorbonne Paris Cité, INSERM UMR1141, Paris, France; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville, Australia.

PMID: 30588498 PMCID: PMC6290489 DOI: 10.1212/NXG.0000000000000297

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

RESULTS: Disease severity inversely correlated with rate of glucose transport between control (V

CONCLUSIONS: Disease severity can be partly explained by the extent of GLUT1 dysfunction. This simple

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