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
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33911214 (PubMed )
Supplement: 41436_2021_1153_MOESM2_ESM.xlsx › Gen_DG
iMusta4SLC: Database for the structural property and variations of solute carrier transporters.
Higuchi A et al.
Biophysics and Physicobiology, 2018
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
Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome.
Shiohama T et al.
Pediatric Neurology, 2013
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
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.
Wang D et al.
Pediatric Research, 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
Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function.
Schürmann A et al.
Biochemistry, 1997
Paroxysmal Nonepileptic Events in Glut1 Deficiency.
Klepper J et al.
Movement Disorders Clinical Practice, 0
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