Associated Papers
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Klepper J
Journal of Inherited Metabolic Disease, 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
Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations: a single-center single-arm retrospective study.
Wang YY et al.
World Journal of Pediatrics : Wjp, 2024
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F et al.
Neurology, 2023
Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review.
Hu Q et al.
Frontiers in Genetics, 2021
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.
Raja M et al.
The Journal of Membrane Biology, 2020
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features.
Kim H et al.
Yonsei Medical Journal, 2019
Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.
Kim SH et al.
Pediatric Neurology, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Ortega-Moreno L et al.
Plos One, 2017
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
Diomedi M et al.
European Journal of Medical Genetics, 2016
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.
Barca E et al.
Jimd Reports, 2016
A Case of Progressive Chorea Resulting From GLUT1 Deficiency.
Kraoua I et al.
Movement Disorders Clinical Practice, 2015
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
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
[De Vivo disease. GLUT-1 deficiency syndrome: a case report].
Daoudi S et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014
Glut1 deficiency: inheritance pattern determined by haploinsufficiency.
Rotstein M et al.
Annals of Neurology, 2010
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
Trivalent arsenicals and glucose use different translocation pathways in mammalian GLUT1.
Jiang X et al.
Metallomics : Integrated Biometal Science, 2010
The spectrum of movement disorders in Glut-1 deficiency.
Pons R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency.
Akman CI et al.
Annals of Neurology, 2010
Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis.
Ullner PM et al.
Neurobiology of Disease, 2009
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
[Glucose transponer type 1 deficiency síndrome (GLUT-1 SD) treated with ketogenic diet. Report of one case].
Cornejo VE et al.
Revista Medica De Chile, 2007
Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro.
Wong HY et al.
Molecular Genetics and Metabolism, 2007
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Wang D et al.
Annals of Neurology, 2005
Predicting the three-dimensional structure of the human facilitative glucose transporter glut1 by a novel evolutionary homology strategy: insights on the molecular mechanism of substrate migration, and binding sites for glucose and inhibitory molecules.
Salas-Burgos A et al.
Biophysical Journal, 2004
Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene.
Lange P et al.
Febs Letters, 2003
GLUT-1 deficiency without epilepsy--an exceptional case.
Overweg-Plandsoen WC et al.
Journal of Inherited Metabolic Disease, 2003
Imaging the metabolic footprint of Glut1 deficiency on the brain.
Pascual JM et al.
Annals of Neurology, 2002
Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer.
Iserovich P et al.
The Journal of Biological Chemistry, 2002
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review.
Klepper J et al.
European Journal of Pediatrics, 2002
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
Brockmann K et al.
Annals of Neurology, 2001
[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome].
Pascual JM et al.
Revista De Neurologia, 0
Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function.
Raja M et al.
Biophysical Chemistry, 0
Ketogenic Diet in Glut 1 Deficiency Through the Life Cycle: Pregnancy to Neonate to Preschooler.
Kramer J et al.
Child Neurology Open, 0
Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome.
Qian H et al.
Medicine International, 0