Associated Papers
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.
Mastrangelo M et al.
European Journal of Pediatrics, 2024
38954008 (PubMed )
Supplement: 431_2024_5657_MOESM2_ESM.xlsx › Valutazione_varianti
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Tayebi N et al.
Annals of Clinical and Translational Neurology, 2023
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Crystal structure of the human glucose transporter GLUT1.
Deng D et al.
Nature, 2014
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG et al.
Brain : a Journal of Neurology, 2010
GLUT1 deficiency without epilepsy: yet another case.
Joshi C et al.
Journal of Child Neurology, 2008
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.
Pascual JM et al.
The Journal of Biological Chemistry, 2008
GLUT1 deficiency syndrome--2007 update.
Klepper J et al.
Developmental Medicine and Child Neurology, 2007
Docking studies show that D-glucose and quercetin slide through the transporter GLUT1.
Cunningham P et al.
The Journal of Biological Chemistry, 2006
GLUT-1 deficiency without epilepsy--an exceptional case.
Overweg-Plandsoen WC et al.
Journal of Inherited Metabolic Disease, 2003
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