Recent Publications

---

• 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