Associated Papers
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Klepper J
Journal of Inherited Metabolic Disease, 2025
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
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
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
Bench meets bedside: a 10-year-old girl and amino acid residue glycine 75 of the facilitative glucose transporter GLUT1.
Klepper J et al.
Biochemistry, 2005
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