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
Dissecting the causal polymorphism of the Lr67res multipathogen resistance gene.
Milne RJ et al.
Journal of Experimental Botany, 2024
Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases.
Olivotto S et al.
Orphanet Journal of Rare Diseases, 2022
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Mellone S et al.
Frontiers in Genetics, 2022
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 2021
Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.
Ruiz Herrero J et al.
Nutrients, 2021
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Castellotti B et al.
Journal of Neurology, 2019
Development of a rapid functional assay that predicts GLUT1 disease severity.
Zaman SM et al.
Neurology. Genetics, 2018
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Cortès-Saladelafont E et al.
Developmental Medicine and Child Neurology, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Gras D et al.
Annals of Neurology, 2017
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M et al.
European Journal of Medical Genetics, 2015
Long-term clinical course of Glut1 deficiency syndrome.
Alter AS et al.
Journal of Child Neurology, 2015
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.
Ramm-Pettersen A et al.
Developmental Medicine and Child Neurology, 2013
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
Hashimoto N et al.
Journal of Human Genetics, 2011
T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake.
Fujii T et al.
Brain & Development, 2011
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
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Wang D et al.
Annals of Neurology, 2005