Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Genetic and Clinical Features of SLC2A1-Related Paroxysmal Exercise-Induced Dyskinesia.
Xu JJ et al.
Pediatric Neurology, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Klepper J
Journal of Inherited Metabolic Disease, 2025
Mechanistic insights into mutation in the proton-coupled folate transporter (SLC46A1) causing hereditary folate malabsorption.
Nandigrami P et al.
The Journal of Biological Chemistry, 2025
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
SLC2A1 variants cause late-onset epilepsy and the genetic-dependent stage feature : For the China Epilepsy Gene 1.0 Project.
Zhang D et al.
Acta Epileptologica, 2024
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
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy.
Lin ZJ et al.
Seizure, 2024
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F et al.
Neurology, 2023
Effect of the R126C mutation on the structure and function of the glucose transporter GLUT1: A molecular dynamics simulation study.
Liu X et al.
Journal of Molecular Graphics & Modelling, 2022
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
Mayo S et al.
International Journal of Molecular Sciences, 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
Jeavons syndrome in a family with GLUT1-deficiency syndrome.
Madaan P et al.
Seizure, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Keeping Glucose Transporter Type 1 Deficiency Syndrome in Mind: A Late Diagnosis and Unusual Neuroimage Findings.
Ros-Castelló V et al.
Movement Disorders Clinical Practice, 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
Development of a rapid functional assay that predicts GLUT1 disease severity.
Zaman SM et al.
Neurology. Genetics, 2018
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
iMusta4SLC: Database for the structural property and variations of solute carrier transporters.
Higuchi A et al.
Biophysics and Physicobiology, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
The face of Glut1-DS patients: A 3D Craniofacial Morphometric Analysis.
Pucciarelli V et al.
Clinical Anatomy (new York, N.y.), 2017
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 2017
Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.
Vaudano AE et al.
Neuroimage. Clinical, 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
Atypical Manifestations in Glut1 Deficiency Syndrome.
De Giorgis V et al.
Journal of Child Neurology, 2016
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Larsen J et al.
Epilepsia, 2015
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
Ito Y et al.
Brain & Development, 2015
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M et al.
European Journal of Medical Genetics, 2015
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
GLUT1 deficiency syndrome into adulthood: a follow-up study.
Leen WG et al.
Journal of Neurology, 2014
GLUT1 deficiency syndrome 2013: current state of the art.
De Giorgis V et al.
Seizure, 2013
Implications of aberrant temperature-sensitive glucose transport via the glucose transporter deficiency mutant (GLUT1DS) T295M for the alternate-access and fixed-site transport models.
Cunningham P et al.
The Journal of Membrane Biology, 2013
Oxidative stress markers and phosphorus magnetic resonance spectroscopy in a patient with GLUT1 deficiency treated with modified Atkins diet.
Kitamura Y et al.
Brain & Development, 2012
Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene.
Gökben S et al.
Epilepsy & Behavior : E&b, 2011
Glut1 deficiency: inheritance pattern determined by haploinsufficiency.
Rotstein M et al.
Annals of Neurology, 2010
Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype.
Veggiotti P et al.
Brain & Development, 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
Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency.
Akman CI et al.
Annals of Neurology, 2010
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Suls A et al.
Annals of Neurology, 2009
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Suls A et al.
Brain : a Journal of Neurology, 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