Associated Papers
Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients.
Zhang MJ et al.
World Journal of Pediatrics : Wjp, 2025
The relationship between genotype and phenotype in Chinese children with glucose transporter type 1 deficiency syndrome.
Zhang MJ et al.
Frontiers in Neurology, 2025
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
Exploring the genetic landscape of diphtheria, tetanus and pertussis vaccination-associated seizures or subsequent epilepsies.
Negi S et al.
The Lancet Regional Health. Southeast Asia, 2023
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.
Zhao X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.
Bourque DK et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021
Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review.
Hu Q et al.
Frontiers in Genetics, 2021
The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan.
Vaudano AE et al.
Human Brain Mapping, 2020
Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.
Chen Y et al.
Frontiers in Pediatrics, 2020
Insulin-Independent and Dependent Glucose Transporters in Brain Mural Cells in CADASIL.
Panahi M et al.
Frontiers in Genetics, 2020
New insights into GluT1 mechanics during glucose transfer.
Galochkina T et al.
Scientific Reports, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
The face of Glut1-DS patients: A 3D Craniofacial Morphometric Analysis.
Pucciarelli V et al.
Clinical Anatomy (new York, N.y.), 2017
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Gras D et al.
Annals of Neurology, 2017
Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.
Vaudano AE et al.
Neuroimage. Clinical, 2017
Atypical Manifestations in Glut1 Deficiency Syndrome.
De Giorgis V et al.
Journal of Child Neurology, 2016
Long-term clinical course of Glut1 deficiency syndrome.
Alter AS et al.
Journal of Child Neurology, 2015
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
De Giorgis V et al.
Seizure, 2015
Suppression of conformation-compromised mutants of Salmonella enterica serovar Typhimurium MelB.
Amin A et al.
Journal of Bacteriology, 2014
Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2.
Chiba T et al.
Nucleosides, Nucleotides & Nucleic Acids, 2014
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Arsov T et al.
Epilepsia, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A et al.
Lancet (london, England), 2012
Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2).
Kawamura Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 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
Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.
Matsuo H et al.
American Journal of Human Genetics, 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 syndrome: clinical, genetic, and therapeutic aspects.
Wang D et al.
Annals of Neurology, 2005
Imaging the metabolic footprint of Glut1 deficiency on the brain.
Pascual JM et al.
Annals of Neurology, 2002
Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome.
Qian H et al.
Medicine International, 0