Associated Papers
Genetic and Clinical Features of SLC2A1-Related Paroxysmal Exercise-Induced Dyskinesia.
Xu JJ et al.
Pediatric Neurology, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia.
Oliver O et al.
Journal of Clinical Medicine, 2025
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Klepper J
Journal of Inherited Metabolic Disease, 2025
Critical importance of accurate diagnosis in treatable neurometabolic disorders: insights from a large Chinese cohort with glucose transporter-1 deficiency syndrome.
Xiong H
World Journal of Pediatrics : Wjp, 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
Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.
Andjelkovic M et al.
Molecular Diagnosis & Therapy, 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
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Analysis of trio test in neurodevelopmental disorders.
Kim SH et al.
Frontiers in Pediatrics, 2022
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 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
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
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.
Musumeci O et al.
Frontiers in Neurology, 2020
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features.
Kim H et al.
Yonsei Medical Journal, 2019
New insights into GluT1 mechanics during glucose transfer.
Galochkina T et al.
Scientific Reports, 2019
Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling.
Mouhib H et al.
F1000research, 2019
Paroxysmal Dyskinesia in Children: from Genes to the Clinic.
Kim SY et al.
Journal of Clinical Neurology (seoul, Korea), 2018
Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.
Hesse AN et al.
Epilepsy Research, 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
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler KM et al.
Pediatric Neurology, 2017
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.
Takahashi S et al.
Clinical Genetics, 2017
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR et al.
Brain : a Journal of Neurology, 2015
Mutational and functional analysis of Glucose transporter I deficiency syndrome.
Nakamura S et al.
Molecular Genetics and Metabolism, 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
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
Lee EE et al.
Molecular Cell, 2015
Molecular Dynamics Simulations of the Human Glucose Transporter GLUT1.
Park MS
Plos One, 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
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
Crystal structure of a bacterial homologue of glucose transporters GLUT1-4.
Sun L et al.
Nature, 2012
Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2).
Kawamura Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake.
Fujii T et al.
Brain & Development, 2011
First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene.
Fung EL 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
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
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009