Glut1 Deficiency Foundation
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Recent Publications



  • An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice
  • Bidirectional astrocytic GLUT1 activation by elevated extracellular K+
  • Current challenges in the pathophysiology, diagnosis and treatment of paroxysmal movement disorders
  • Intra-cisterna magna delivery of an AAV vector with the GLUT1 promotor in a pig recpaitulates the physiological expression of SLC2A1
  • Role of the GLUT1 Glucose Transporter in Postnatal CNS Angiogenesis and Blood-Brain Barrier Integrity
  • A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy
  • Glut1 Deficiency Syndrome (Glut1DS): State of the Art in 2020 and Recommendations from an International Glut1DS Study Group
  • Efficient isolation of brain capillary from a single frozen mouse brain for protein expression analysis
  • A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies
  • GLUT1 deficiency:  Retinal detrimental effects of gliovascular modulation
  • Variety of Symptoms of GLUT1 Deficiency Syndrome in Three-Generation Family 
  • Diagnostic Challenges Associated With GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features 
  • Mechanistic Insights into Protein Stability and Self-aggregation in Genetic Variants Causing GLUT1-Deficiency Syndrome.
  • ​Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome
  • Personalized medicine in the genetic epilepsies - possibilities, challenges, and new frontiers
  • GLUT1DS and the ketogenic diet.
  • Fluoxetine induces glucose uptake and modifies glucose transporter palmitoylation in human peripheral blood mononuclear cells.
  • Exogenous Ketones Lower Blood Glucose Level in Rested and Exercised Rodent Models.
  • Ketogenic Diet: A New Light Shining on Old but Gold Biochemistry.
  • Therapeutic strategies for glucose transporter 1 deficiency syndrome.
  • The glymphatic system delivery enhances the transduction efficiency of AAV1 to brain endothelial cells in adult mice.
  • Ketogenic Diet in Patients with GLUT1 Deficiency Syndrome.
  • A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain.
  • Insulin acutely increases glucose transporter 1 on plasma membranes and glucose uptake in an AKT-dependent manner in chicken adipocytes.
  • Incidence and phenotypes of childhood-onset genetic epilepsies:  a prospective population-based national cohort​.
  • Jeavons syndrome in a family with GLUT1-deficiency syndrome.
  • Long-Term Effects of a Classic Ketogenic Diet on Ghrelin and Leptin Concentration: A 12-Month Prospective Study in a Cohort of Italian Children and Adults with GLUT1-Deficiency Syndrome and Drug Resistant Epilepsy.
  • Quality of Life in Chronic Ketogenic Diet Treatment: The GLUT1DS Population Perspective.
  • Impact of the Ketogenic Diet on Linear Growth in Children: A Single-Center Retrospective Analysis of 34 Cases.
  • Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.
  • Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations.
  • Early-Life Iron Deficiency Alters Glucose Transporter-1 Expression in the Adult Rodent Hippocampus.
  • Keeping Glucose Transporter Type 1 Deficiency Syndrome in Mind: A Late Diagnosis and Unusual Neuroimage Findings.
  • GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders?
  • Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
  • Total Intravenous Anesthesia in GLUT1 Deficiency Syndrome Patient: A Case Report
  • Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect
  • Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.​
  • GLUT1 deficiency and pediatric-onset hereditary spastic paraplegia: A new association​
  • Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome
  • New insights into GluT1 mechanics during glucose transfer.
  • Glia-neuron energy metabolism in health and diseases:  New insights into the role of the nervous system metabolic transporters
  • Myeloid Slc2a1-Deficient Murine Model Revealed Macrophage Activation and Metabolic Phenotype Are Fueled by GLUT1.
  • Development of a rapid functional assay that predicts GLUT1 disease severity.
  • Glucose transporter 1 critically controls microglial activation through facilitating glycolysis.
  • SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.
  • Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.
  • GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging.
  • The glucose transporter type 1 (Glut1) syndromes.
  • Mechanistic insights into GLUT1 activation and clustering revealed by super-resolution imaging.
  • Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome.
  • Genetic generalized epilepsies.​
  • Paroxysmal ocular movements - an early sign in Glut1 deficiency Syndrome.
  • Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the
    International Ketogenic Diet Study Group
  • Gene therapy for Glut1-deficient mouse using an adeno-associated virus vector with the human intrinsic GLUT1 promoter.
  • Glucose transporter 1 deficiency syndrome: features of movement disorders, diagnosis and treatment.
  • Glucose Transporter Type 1 Deficiency Syndrome.
  • A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?
  • Anemia in Glucose Transporter Type 1 Deficiency Syndrome:  Often Expected, Rarely Encountered, and with a Fascinating Explanation
  • Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations.
  • Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
  • Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.
  • Glucose Uptake in Heterologous Expression Systems.
  • 10 patients, 10 years - Long term follow-up of cardiovascular risk factors in Glut1 deficiency treated with ketogenic diet therapies: A prospective, multicenter case series.
  • Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.
  • Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature.
  • Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
  • Anemia in Glucose Transporter Type 1 Deficiency Syndrome: Often Expected, Rarely Encountered, and with a Fascinating Explanation.
  • Blood test accurately detects GLUT1 Deficiency Syndrome
  • Ultrastructure of human erythrocite GLUT1
  • Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type 1 (Glut1) Deficiency
  • ​Reconciling contradictory findings: Glucose transporter 1 (GLUT1) functions as an oligomer of allosteric, alternating access transporters
  • Comparative study on glucose transporters expression and activity between stem cell-derived brain microvascular endothelial cells and hCMEC/D3 cells
  • Stroke mimics add to the phenotypic spectrum of Glut1 deficiency syndrome
  • Mutations In Disordered Regions Cause Disease By Creating Endocytosis Motifs
  • Genetic Identification in Early Onset Parkinsonism among Norwegian patients
  • Clinical Aspects of Glucose Transporter Type 1 Deficiency:  Information From a Global Registry
  • Early-Life Epilepsies and the Emerging Role of Genetic Testing
  • Paroxysmal eye–head movements in Glut1 deficiency syndrome.
  • Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.
  • Near-critical GLUT1 and Neurodegeneration.
  • EEG findings during “paroxysmal hemiplegia” in a patient with GLUT1-deficiency.
  • Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.
  • Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome.
  • Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.
  • Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.
  • Paroxysmal Nonepileptic Events in Glut1 Deficiency.
  • Novel mutation in a patient with late onset GLUT1 deficiency syndrome.
  • Precision medicine in genetic epilepsies: break of dawn?
  • A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
  • Alternative ketogenic diets in glucose transporter type 1 deficiency syndrome.
  • Ketogenic diet prevents neuronal firing increase within the substantia nigra during pentylenetetrazole-induced seizure in rats.
  • Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome.
  • Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome.
  • Evaluation of non-coding variation in GLUT1 deficiency.
  • Atypical Manifestations in Glut1 Deficiency Syndrome.
  • Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey.
  • Clinical Variability of GLUT1DS.
  • Mechanistic Study of Human Glucose Transport Mediated by GLUT1
  • Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment
  • Use of dietary therapies amongst patients with GLUT1 deficiency syndrome
  • Glucose Transporter 1 Deficiency: A Treatable Cause of Opsoclonus and Epileptic Myoclonus.
  • Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.
  • CD46 Activation Regulates miR-150–Mediated Control of GLUT1 Expression and Cytokine Secretion in Human CD4+ T Cells
  • CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.
  • The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
  • Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function.
  • Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
  • Glut1 Deficiency and Myoclonic Astatic Epilepsy – reassessed
  • Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease.
  • Mutational and functional analysis of Glucose transporter I deficiency syndrome.
  • From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
  • Ketogenic diets in patients with inherited metabolic disorders.
  • New Paradigm for the Treatment of Glucose Transporter 1 Deficiency Syndrome: Low Glycemic Index Diet and Modified High Amylopectin CornstarchDo Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?
  • Short-term effects of ketogenic diet on anthropometric parameters, body fat distribution, and inflammatory cytokine production in GLUT1 deficiency syndrome.
  • PKCs Sweeten Cell Metabolism by Phosphorylation of Glut1.
  • Outline of metabolic diseases in adult neurology.
  • GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?
  • A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
  • Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.
  • Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.
  • Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function.
  • Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency
  • Sporadic and familial glut1ds Italian patients: A wide clinical variability
  • When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?
  • Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan
  • Association between coenzyme Q 10 and glucose transporter (GLUT1) deficiency
  • Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study
  • Transition for patients with epilepsy due to metabolic and mitochondrial disorders
  • Glucose transporter-1 deficiency syndrome can cause various clinical symptoms
  • A Cause of Permanent Ketosis: GLUT-1 Deficiency
  • Triheptanoin for Glucose Transporter Type 1 Deficiency (G1D):  Modulation of Human Ictogenesis, Cerebral Metabolic Rate, and Cognitive Indices by a Food Supplement
  • Focal epilepsy in Glucose transporter type 1 (Glut1) defects: case reports and a review of literature.
  • Epilepsy, energy deficiency and new therapeutic approaches including diet.
  • A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.
  • Refractory Absence Epilepsy and Glut1 Deficiency Syndrome: A New Case Report and Literature Review.
  • Long-Term Clinical Course of Glut1 Deficiency Syndrome.
  • Long-term effects of a ketogenic diet on body composition and bone mineralization in GLUT-1 deficiency syndrome: A case series.
  • Brain glucose transporters: Implications for neurologic disease.
  • Dietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome.
  • Adolescents with clinical type 1 diabetes display reduced red blood cell glucose transporter isoform 1 (GLUT1).
  • Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review.
  • Glucose transport in brain – effect of inflammation.
  • Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet
  • GLUT1 deficiency syndrome into adulthood: a follow-up study.
  • Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role
  • Child Neurology: Differential diagnosis of a low CSF glucose in children and young adults.
  • GLUT1 deficiency syndrome: An update.
  • Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome.
  • Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet
  • Implications of Aberrant Temperature-Sensitive Glucose Transport Via the Glucose Transporter Deficiency Mutant (GLUT1DS) T295M for the Alternate-Access and Fixed-Site Transport Models
  • Glut1 Deficiency Syndrome and Novel Ketogenic Diets
  • Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: A pediatric observation
  • Glucide metabolism disorders (excluding glycogen myopathies)
  • Epilepsy in inborn errors of metabolism
  • Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy
  • Refractory absence epilepsy associated with GLUT-1 deficiency syndrome
  • Inborn errors of metabolism in adult neurology
  • Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet
  • The SLC2 (GLUT) family of membrane transporters
  • Glucose transporter 1 deficiency in the idiopathic generalized epilepsies
  • The Many Faces of Glut1 Deficiency Syndrome
  • Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency
  • Absence of SLC2A1 Mutations Does Not Exclude Glut1 Deficiency Syndrome
  • Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS)
  • Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome: A Systematic Review

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