Associated Papers
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Klepper J
Journal of Inherited Metabolic Disease, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 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
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F et al.
Neurology, 2023
Role of EEG as a monitoring tool in patients with glucose transporter type I deficiency syndrome (GLUT1-DS) on ketogenic diet.
Toro-Perez J et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Tayebi N et al.
Annals of Clinical and Translational Neurology, 2023
Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway.
Stenshorne I et al.
Frontiers in Pediatrics, 2022
Characterization of Speech and Language Phenotype in GLUT1DS.
Zanaboni MP et al.
Children (basel, Switzerland), 2021
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
The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan.
Vaudano AE et al.
Human Brain Mapping, 2020
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
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.
Nicita F et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2019
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
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
Crystal structure of the human glucose transporter GLUT1.
Deng D et al.
Nature, 2014
The many faces of Glut1 deficiency syndrome.
Tzadok M et al.
Journal of Child Neurology, 2014
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
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Wang D et al.
Annals of Neurology, 2005