We believe progress will come quickest and easiest not in a straight path or roadmap, but by creating relationships and collaborations across the many scientific corners that touch our disease.
We’re focusing on 8 major areas:
Help us drive progress
We need faster, easier diagnosis and deeper, clearer understanding of this rare disease so we can find better ways to treat it. The burdens are many, and the patients are waiting.
JOIN OUR COLLABORATIVE RESEARCH NETWORK
Open Source Research Tools
Develop the most relevant and reliable tools to use for research and make them easily accessible to any researcher.
Questions and Topics for Focus
- Determine or develop the best cell and animal models for research
- Standardize the research assays and procedures
- Determine and/or develop the best research and clinical tools
Open Source Research Tools
Cell Lines and Biosamples:
- cell lines – iPSC to create other relevant cell types
- endothelial cell models - Blood Brain Barrier (BBB)
- organoids – Blood Brain Barrier (BBB), brain
- patient biospecimens – blood, tissue, fibroblasts, CSF, autopsy series
- omics and scRNA-seq data from patient samples
- better classification and characterization of variants
Animal Models:
- Are more mouse models needed?
- Is a pig model needed?
- Is there a role for a zebrafish model?
- omics and scRNA-seq data from animal models
- transcriptomics
- metabolomics
- proteomics
- epigenetic profiling (acetylation, methylation, etc.)
Assays:
- standardized assays for quantifying functional GLUT1
- standardized reagents: antibodies, viral shRNA vectors, others?
Other Tools:
- improved intracerebral glucose and ketone measurements
- better tools to study BBB transport
Clinical Tools:
- consistent and reliable biomarkers
- meaningful outcome measures
- natural history patient data – patient and clinician reported
- outcomes, electronic health records
- newborn screening tool
Latest Publications
Maintenance of pig brain function under extracorporeal pulsatile circulatory control (EPCC) (2023)
Deep Transfer Learning-Based Approach for Glucose Transporter-1 (GLUT1) expression Assessment (2023)
Maintenance of pig brain function under extracorporeal pulsatile circulatory control (EPCC) (2023)
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome (2023)
Development of a rapid functional assay that predicts GLUT1 disease severity (2018)
A mouse model for Glut1 Haploinsufficiency (2006)
Working in this Area
Contact us if you'd like your team or lab included.
Tamio Furuse, PhD
RIKEN BioResource Research Center
Saitama, Japan
Christina Gurnett, MD, PhD
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania USA
Juan Pascual, MD, PhD
Weill Cornell Medicine
New York, New York USA
Caroline Pearson, PhD
Weill Cornell Medicine
New York, New York USA
Maoxue Tang, PhD
Columbia University Medical Center
New York, New York USA
Cells
More clearly define the cell types involved in the disease, their locations in the body, and which ones can and should be targeted for treatment.
Questions and Topics for Focus
- Clearly determine which cells are involved in the disease mechanism
- Identify where the impacted cells are located and/or isolated
- Develop comprehensive, diverse, and representative cell lines
Cells
- What cells are clearly and definitively impacted in GLUT1 Deficiency? (endothelial, astrocytes, neurons?) others?
- Where are the impacted cells located?
other body areas and systems? muscles? retina? BBB or brain only? what regions of the brain? - What is the right cell model to use for drug screening activities?
- How many cell lines do we need considering the heterogeneity?
Latest Publications
Astrocytic GLUT1 reduction paradoxically improves central and peripheral glucose homeostasis (2024)
Molecular Heterogeneity of the Brain Endothelium (2023)
Endothelial GLUTS and vascular biology (2023)
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome (2023)
Bidirectional astrocytic GLUT1 activation by elevated extracellular K+ (2020)
Aspirin, a potential GLUT1 inhibitor in a vascular endothelial cell line (2019)
Working in this Area
Contact us if you'd like your team or lab included.
Mariana Bollo, PhD
CONICET
Córdoba, Argentina
Abraham Al-Ahmad, PhD
Texas Tech University
Amarillo, Texas USA
Christina Gurnett, MD, PhD
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania USA
Juan Pascual, MD, PhD
Weill Cornell Medicine
New York, New York USA
Caroline Pearson, PhD
Weill Cornell Medicine
New York, New York USA
Ivy Samuels, PhD
Louis Stokes VA Medical Center, Cole Eye Institute - Cleveland Clinic
Cleveland, Ohio USA
Maoxue Tang, PhD
Columbia University Medical Center
New York, New York USA
Robin Williams, PhD
Royal Holloway
London, England
GLUT1 - The Transporter Protein
Better understand the function of GLUT1, what influences that function, and how malfunctions can be corrected.
Questions and Topics for Focus
- Better understand the function of GLUT1 throughout the body
- Determine how GLUT1 function is influenced and regulated
- Identify methods to correct malfunctions
GLUT1 - The Transporter Protein
- What are the other functions of GLUT1 besides glucose transport? What are we missing?
- What impacts trafficking, expression, function, and configuration?
- Does GLUT1 function and/or expression change over the lifespan?
- How is GLUT1 activity impacted by binding partners?
- Why the familial differences with same variant - what else regulates GLUT1?
- How is GLUT1 regulated at the transcriptional level and post-transcriptional level?
- How can GLUT1 expression or transport be upregulated in the target cells?
- Are there off-target implications of manipulating GLUT1 expression?
- Can faulty GLUT1 be bypassed? How?
- Can/do other GLUTs compensate for impaired GLUT1?
- What is the minimum amount of GLUT1 needed to prevent disease?
Blood Brain Barrier
- What other factors at the BBB impact GLUT1 activities?
- What all is involved in GLUT1 regulation at the BBB? Is it different than in other tissues/cells?
- How do we maximize transport of glucose through the BBB?
- Do diet/metabolic therapies alter the BBB?
- Do diet/metabolic therapies change glucose transport at the BBB?
- Can we discover pharmacological approaches that alter transport at the BBB?
- Does exogenous GLUT1 function the same as endogenous at the BBB?
Latest Publications
GLUT1 acts in corazonin-producing neurons to regulate glycogen storage in Drosophila (2026)
GLUT1 overexpression enhances CAR T cell metabolic fitness and anti-tumor efficacy (2024)
Regulation of Glucose Transporter 1 by IL-1B stimulation in rat articular chondrocytes (2009)
Prevalence of GLUT1 overexpression in human cancers a systematic review and meta analysis (2025)
Astrocytic GLUT1 deletion in adult mice enhances glucose metabolism and resilience to stroke (2025)
PKM2 crotonylation reprograms glycolysis in VSMCs, contributing to phenotypic switching (2025)
Chapter two - The molecular mechanism underlying the human glucose facilitators inhibition (2025)
Metabolic control of Luteinizing Hormone-responsive ovarian steroidogenesis (2024)
Human Genetic GLUT1 Deficiency Results in Impaired T Cellular IFN-g Production (2024)
Antioxidant treatment attenuates age-related placenta GLUT-1 and PLIN-2 downregulation (2024)
GLUT-1 Overexpression in Neoplastic Cells (2024)
A special RELationship between sugar and timor-infiltrating regulatory T cells (2024)
Selective utilization of glucose metabolism guides mammalian gastrulation (2024)
Astrocytic GLUT1 reduction paradoxically improves central and peripheral glucose homeostasis (2024)
Endothelial metabolic control of insulin sensitivity through resident macrophages (2024)
The Blood Brain Barrier in Both Humans and Rats: A Perspective From 3D Imaging (2024)
Oligodendroglial fatty acid metabolism as a central nervous system energy reserve (2024)
Overexpression of SLC2A1, ALDOC, and PFKFB4 in the glycolysis pathway drives strong drug resistance in 3D HeLa tumor cell spheroids (2024)
The Role of Muller Cells in Diabetic Retinopathy (2024)
The pivotal role of glucose transporter 1 in diabetic kidney disease (2024)
GLUT1 overexpression enhances CAR T cell metabolic fitness and anti-tumor efficacy (2024)
The protective role of endothelial GLUT1 in ischemic stroke (2024)
Aberrantly Glycosylated GLUT1 as a Poor Prognosis MArker in Aggressive Bladder Cancer (2024)
Complete absence of GLUT1 does not impair human terminal erythroid differentiation (2024)
Toward an understanding of glucose metabolism in radial glial biology and brain development (2023)
Endothelial GLUTS and vascular biology (2023)
Lactate-dependent transcriptional regulation controls mammalian eye morphogenesis (2023)
Glut1 is a highly efficient L-fucose transporter (2022)
O-GlcNAcylation moduleates GLUT1 levels at the blood-brain barrier (2022)
ATM and GLUT1-S490 Phosphorylation Regulate GLUT1 Mediated Transport in Skeletal Muscle (2013)
Structural analysis of the GLUT1 facilitative glucose transporter (2001)
Glucose Deprivation Does Not Affect GLUT1 Targeting in 3T3-L1 Adipocytes (2000)
The role of N-glycosylation in the targeting and stability of GLUT1 glucose transporter (1993)
The Role of N-Glycosylation of GLUT1 for Glucose Transport Activity (1991)
Working in this Area
Contact us if you'd like your team or lab included.
Felipe Barros, MD, PhD
Centro de Estudios Científicos
Valdivia, Chile
Mattia Bonzanni, PhD
Weill Cornell Medicine
New York, New York USA
Prof. Dr. Katrien De Bock
ETH Zürich
Zürich, Switzerland
Hudson Freeze, PhD
Sanford Burnham Prebys
La Jolla, California USA
Prof. Dr. Jörg Klepper
Aschaffenburg Children's Hospital
Aschaffenburg, Germany
Amy Nelson, PhD
University of South Alabama
Mobile, Alabama USA
Juan Pascual, MD, PhD
Weill Cornell Medicine
New York, New York USA
Caroline Pearson, PhD
Weill Cornell Medicine
New York, New York USA
Maoxue Tang, PhD
Columbia University Medical Center
New York, New York USA
Metabolism
Better understand the metabolic functions that are impaired by GLUT1 Deficiency and identify ways to compensate.
Questions and Topics for Focus
- Better understand the role of glucose in metabolism
- Identify other metabolites, enzymes, substrates, and pathways involved
- Find methods to compensate for metabolic defects
Metabolism
- What are the downstream implications of impaired brain glucose transport? Is it more than an energy issue?
-other substrates?
-other GLUTs?
-other molecules (BDNF - brain derived neurotrophic factor, NADPH -nicotinamide adenine dinucleotide phosphate, others)?
-cycles and pathways (glycolysis, glycosylation, glucogenesis, ATP, lactate shuttle, others)? - Can these downstream implications be treatment targets?
- What are the glycogen and glycosylation levels in mouse models?
- What is the role of glycogen in GLUT1 Deficiency? Can glycogen metabolism be manipulated for potential utilization?
- What is the role for adenosine in GLUT1 Deficiency?
- What about substrate competition vs. utilization?
- How do we better understand the astrocyte/neuronal lactate shuttle?
- What are the astrocytes taking up vs. the neurons? What does each need more of?
- What about substrate driven toxicity?
Latest Publications
SPN2 exports sphingosine-1-phosphate and imports glucose
In situ microwave fixation provides an instantaneous snapshot of the brain metabolism (2023)
Metabolic Recruitment in Brain tissue (2023)
Brain Energy metabolism: Astrocytes in neurodegenerative diseases (2023)
PFKFB2-mediated glycolysis promotes lactate-driven continual efferocytosis by macrophages (2023)
Glut1 is a highly efficient L-fucose transporter (2022)
Metabolic recruitment of brain tissue (2022)
GLUT1 production in cancer cells: a tragedy of the commons (2022)
Role of the gut-brain axis in energy and glucose metabolism (2022)
AMPK in the brain: its roles in glucose and neural metabolism (2022)
Potential mechanisms to modify impaired glucose metabolism in neurodegenerative disorders (2022)
Glucose metabolic crosstalk and regulation in brain function and diseases (2021)
Glucose, glycolysis, and neurodegenerative diseases (2020)
Regional differences in brain glucose metabolism determined by imaging mass spectrometry (2018)
Glut1 deficiency syndrome: New and emerging insights into a prototypical brain and energy failure disorder (2021)
Glia-neuron energy metabolism in health and diseases: New insights into the role of the nervous system metabolic transporters (2018)
PKCs Sweeten Cell Metabolism by Phosphorylation of Glut1 (2015)
Working in this Area
Contact us if you'd like your team or lab included.
Felipe Barros, MD, PhD
Centro de Estudios Científicos
Valdivia, Chile
Mattia Bonzanni, PhD
Weill Cornell Medicine
New York, New York USA
Prof. Dr. Katrien De Bock
ETH Zürich
Zürich, Switzerland
Hudson Freeze, PhD
Sanford Burnham Prebys
La Jolla, California USA
Matthew Gentry, PhD
University of Florida
Gainesville, Florida USA
Juan Pascual, MD, PhD
Weill Cornell Medicine
New York, New York USA
Prof. Dr. Michél Willemsen
Radboud University Medical Center
Nijmegen, Netherlands
Robin Williams, PhD
Royal Holloway
London, England
Genetics
Identify all the genes that may play a role in GLUT1 Deficiency, how defects in the genes contribute to disease, and how their function can be repaired.
Questions and Topics for Focus
- Better understand the functional implications of variants
- Clarify genotype/phenotype relationships
- Identify regulators of gene expression
Genetics
- What are the variants clearly associated with disease?
- What are the functional consequences of those variants?
- What are the genotype/phenotype relationships- what determines or influences a patient’s progression/journey?
- What other factors influence gene expression, especially in cases of multiple family members with varying phenotypes?
- Are other genes or other regions of SLC2A1 implicated in GLUT1 Deficiency?
Gene Therapy:
- Does the ketogenic diet expand the therapeutic window of gene replacement?
- Is AAV9 capable of reaching the target cells in the target location?
- Is AAV the optimal capsid for human brain endothelial cells? How durable will it be?
- What other cells types will need to be targeted? Astrocytes?
- What is the optimal route of administration going to be?
- Is there a role for ex vivo gene therapy through autologous bone marrow transplant?
- What about the toxicity and/or cancer risks of producing too much GLUT1? Especially with respect to AAV-based gene therapy?
Latest Publications
Impoverished Conceptions of Gene Causation and Therapy in developmental Neurology (2023)
Genetic Modulation of the Glut1 Transporter Expression - Potential Relevance in Complex Diseases
The glucose transporter type 1 (Glut1) syndromes (2018)
GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype (2017)
Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome (2021).
Variety of Symptoms of GLUT1 Deficiency Syndrome in Three-Generation Family (2020)
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs (2018)
Mutational and functional analysis of Glucose transporter I deficiency syndrome (2015)
Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function (2015)
Absence of SLC2A1 Mutations Does Not Exclude Glut1 Deficiency Syndrome (2013)
Evaluation of non-coding variation in GLUT1 deficiency (2016)
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes (2019)
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group (2020)
GENE THERAPY
Working in this Area
Contact us if you'd like your team or lab included.
Soumalya Chakraborty, MD
Columbia University
New York City, USA
Kris Engelstad, MS, CGC
Columbia University Medical Center
New York City, USA
Christina Gurnett, MD, PhD
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania USA
Umrao Monani, PhD
Columbia University
New York City, USA
Juan Pascual, MD, PhD
Weill Cornell Medicine
New York, New York USA
Maoxue Tang, PhD
Columbia University Medical Center
New York, New York USA
Pathogenesis
Better define the clinical course of GLUT1 Deficiency, what causes the symptoms, and why they change over time.
Questions and Topics for Focus
- Better understand the patient journey
- Clarify and explain the long term clinical course
- Identify synergies with other Glut1-involved diseases
Pathogenesis
- What happens to the human brain with prolonged glucose or GLUT1 deficiency? (growth, structure, inflammation)
- What other organs or body systems may be impacted by GLUT1 deficiency?
- What are the mechanisms behind the evolution of the disease and changes from infancy to adulthood?
- What happens to elderly/aged patients?
- What can we learn from studying other GLUT1-involved diseases? How can we synergize efforts?
Latest Publications
Deficits in brain glucose transport amongst younger adults with obesity (2024)
GLUT1 Deficiency syndrome in adulthood: lost in diagnosis (2026)
GLUT1DS: focus on motor profile (2025)
Adult-onset non-kinesigenic paroxysmal dyskinesia in GLUT1 deficiency syndrome (2025)
Glut1 Deficiency Syndrome: Novel pathomechanisms, current concepts, and challenges (2025)
Oculogyric Crisis and Criss-Cross gait of GLUT1 Deficiency Syndrome (2025)
Treatment of an opposing metabolic situation: GLUT1-Deficiency Syndrome and Type 1 Diabetes (2025)
Treatable movement disorders in children (2025)
Development of content validity of the Glut1DS Movement Disorder Diary (2025)
The spectrum of movement disorders in Glut-1 deficiency (2010)
Differentiating non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome (2025)
Stroke and stroke-like episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome (2024)
Human Genetic GLUT1 Deficiency Results in Impaired T Cellular IFN-y Production (2024)
Epilepsy and inborn errors of metabolism (2024)
Lower GLUT1 and unchanged MCT1 in ALzheimer’s disease cerebrovasculature (2024)
The pivotal role of glucose transporter 1 in diabetic kidney disease (2024)
GLUT1 overexpression enhances CAR T cell metabolic fitness and anti-tumor efficacy (2024)
The protective role of endothelial GLUT1 in ischemic stroke (2024)
Visual-sensitive epilepsy in GLUT-1 deficiency syndrome: Expanding the phenotype (2023)
Hypometabolism, ALzheimer’s Disease, and Possible Therapeutic Targets: An Overview (2023)
Glucose metabolism: A link between traumatic brain injury and Alzheimer’s disease (2021)
Brain metabolism in Alzheimer’s disease: biological mechanisms of exercise (2023)
AMPK-mediated potentiation of GABAergic signalling drives hypoglycaemia-provoked spike-wave seizures
Intermittent Alternating Eye-Head Synkenesia in Glut1 Deficiency Syndrome (2021)
Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome (2021)
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias (2020)
GLUT1 deficiency: Retinal detrimental effects of gliovascular modulation (2020)
Long-Term Clinical Course of Glut1 Deficiency Syndrome (2015)
GLUT1 deficiency syndrome into adulthood: a follow-up study (2014)
Glucose Transporter Type 1 Deficiency Syndrome: Gene Reviews (2002)
Working in this Area
Contact us if you'd like your team or lab included.
Prof. Dr. Jörg Klepper
Aschaffenburg Children's Hospital
Aschaffenburg, Germany
Umrao Monani, PhD
Columbia University
New York City, USA
Juan Pascual, MD, PhD
Weill Cornell Medicine
New York, New York USA
Therapy Development
Better understand the benefits and limitations of current therapies and develop new and better ones.
Questions and Topics for Focus
- Develop better, easier treatments for all symptoms
- Optimize ketogenic dietary therapies
- Target treatment outcomes most meaningful for patients and families
Therapy Development
- Why/how does ketosis fail to fully resolve symptoms in GLUT1 Deficiency?
- What options are there if ketogenic diets fail?
- Can we make ketogenic diets more effective and easier to implement?
- Does genotype/phenotype impact diet efficacy?
- What is the role for MCT’s (oils, triheptanoin, K.Vita)?
- What is the role for ketone esters?
- What level of ketones should we aim for? Does this change over time? Are ketones even important?
- What happens with the need for ketogenic diets into adulthood? Are they less or equally necessary?
- Is there a role for ketogenic diet in patients with GLUT1 Deficiency identified before symptoms start (e.g. genetically or due to an affected parent)?
- What is the role for diazoxide? Why?
- What is the role for acetazolamide? Why?
- How can we rescue the movement episodes?
- Which anticonvulsants could help with seizure control? Which ones should be avoided?
- Which movement disorder drugs could help? Which ones should be avoided?
- Are there treatments to target speech and communication symptoms?
- Are there treatments to target cognitive symptoms?
- Is personalized medicine necessary based on level of transport, genotype, and/or phenotype?
- Can GLUT1 activity or expression be enhanced by repurposed drugs?
- Can GLUT1 Deficiency be cured completely?
- Will there be lingering or return of symptoms with gene therapy?
- Are there clearly defined treatment windows?
Latest Publications
Treatment of an opposing metabolic situation: GLUT1-Deficiency Syndrome and Type 1 Diabetes (2025)
Dietary therapy in the management of epilepsy (2025)
Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome (2025)
Targeted therapies in epilepsies (2025)
Seizure and redox rescue in a model of glucose transport deficiency (2025)
Prescribing errors in hospitalized patients on the ketogenic diet (2025)
D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS) (2025)
Micronutrients intake in patients with refractory epilepsy with ketogenic diet treatment (2025)
Ketogenic diet therapy for the treatment of pediatric epilepsy (2024)
Ketogenic diet therapy for epilepsy: Clinical pearls (2024)
Ketone bodies rescue T cell impairments induced by low glucose availability (2024)
Glut1 is a highly efficient L-fucose transporter (2022)
Lactate infusion as therapeutical intervention: a scoping review (2022)
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome (2022)
Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome (2021)
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias (2020)
Glucose transporter type 1 deficiency syndrome and the ketogenic diet (2019)
Ketogenic Diet in Patients with GLUT1 Deficiency Syndrome (2019)
Quality of Life in Chronic Ketogenic Diet Treatment: The GLUT1DS Population Perspective (2019)
Failure of ketogenic diet therapy in GLUT1 deficiency syndrome (2019)
Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome (2016)
Use of dietary therapies amongst patients with GLUT1 deficiency syndrome (2016)
Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey (2016)
Therapeutic Strategies for Glucose Transporter 1 Deficiency Syndrome (2016)
Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet (2008)
Working in this Area
Contact us if you'd like your team or lab included.
Mariana Bollo, PhD
CONICET
Córdoba, Argentina
Mattia Bonzanni, PhD
Weill Cornell Medicine
New York, New York USA
Hudson Freeze, PhD
Sanford Burnham Prebys
La Jolla, California USA
Christina Gurnett, MD, PhD
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania USA
Prof. Dr. Jörg Klepper
Aschaffenburg Children's Hospital
Aschaffenburg, Germany
Eric Kossoff, MD
Johns Hopkins Hospital
Baltimore, Maryland USA
Umrao Monani, PhD
Columbia University
New York City, USA
Amy Nelson, PhD
University of South Alabama
Mobile, Alabama USA
Juan Pascual, MD, PhD
Weill Cornell Medicine
New York, New York USA
Maoxue Tang, PhD
Columbia University Medical Center
New York, New York USA
Casey Vickstrom, MD, PhD
Washington University
St. Louis, Missouri USA
Robin Williams, PhD
Royal Holloway
London, England
Clinical Tools
Develop tools to improve the diagnostic process, support better clinical care, and advance meaningful treatment development.
Questions and Topics for Focus
- Develop better and easier biomarkers
- Identify the most appropriate outcome measures
- Develop a newborn screening tool
Clinical Tools
- What is the full phenotypic spectrum of GLUT1 deficiency?
- How do we improve and best measure cognition and communication outcomes for patients, the top priorities identified by patients for quality of life improvements?
- What are the appropriate endpoints for clinical trials?
- What are the best biomarkers to use?
- Is there a way to use advanced imaging analysis/machine learning for outcome measures?
- Is there a role for continuous glucose monitoring in clinical care?
- Should we incorporate the glucose ketone index into clinical care?
- Should we develop master protocols – what is the optimal therapy for each patient group?
- Newborn screening tool – can we intervene early?
Latest Publications
Vitamin D and Inborn Errors of Metabolism (2025)
Adult-onset non kinesigenic paroxysmal dyskinesia in GLUT1 deficiency syndrome (2025)
Differentiating non-epileptic seizures from epileptic seizures in GLUT1 Deficiency Syndrome (2025)
Clinical and instrumental gait phenotyping in people with GLUT1 Deficiency syndrome (2025)
Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency (2021)
Diagnosis and treatment recommendations for glucose transporter 1 deficiency (2025)
A high fat diet potentiates neonatal iron overload-induced memory impairments in rats (2024)
Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome (2023)
Ketonemia variability through menstrual cycle in patients undergoing classic ketogenic diet (2023)
Case report: KETOLAND the psychoeducation program for ketogenic diet (2023)
Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment (2023)
A concise study of acetazolamide in Glut1 deficiency (G1D) epilepsy (2023)
Combination of triheptanoin with ketogenic diet in Glucose transporter type1 deficiency (G1D) (2023)
Genetic Links to Episodic Movement Disorders: Current Insights (2023)
Spotlighting the zebras: A Role for Medical Students in Shaping Rare Disease Care (2022)
Abnormal gait and hypoglycorrhachia in a toddler with seizures (2022)
Hemidystonia and hemichorea in a pediatric patient with glucose transporter type 1 deficiency (2022)
Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome (2021)
Aspirin, a potential GLUT1 inhibitor in vascular endothelial cell line (2019)
Development of a rapid functional assay that predicts GLUT1 Disease severity (2018)
Blood test accurately detects GLUT1 Deficiency Syndrome (2017)
Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome
Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome: A Systematic Review (2013)
The role for ketogenic diets in epilepsy and status epilepticus in adults (2017)
Payroxysmal Eye-Head Movements in Glut1 Deficiency Syndrome (2017)
Stroke mimics add to the phenotypic spectrum of Glut1 deficiency syndrome (2017)
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome (2017)
Sporadic and familial glut1ds Italian patients: A wide clinical variability (2015)
Long-Term Clinical Course of Glut1 Deficiency Syndrome
GLUT1 deficiency syndrome into adulthood: a follow-up study (2015)
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood (2014)
Healthcare for persons with intellectual and developmental disability in the community (2014)
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome (2011)
Glucose Transporter Type 1 Deficiency Syndrome: Gene Reviews (2002)
Working in this Area
Contact us if you'd like your team or lab included.
Matthew Gentry, PhD
University of Florida
Gainesville, Florida USA
Prof. Dr. Jörg Klepper
Aschaffenburg Children's Hospital
Aschaffenburg, Germany
Juan Pascual, MD, PhD
Weill Cornell Medicine
New York, New York USA
Toni Pearson, MBBS
Nationwide Children's Hospital
Columbus, Ohio USA
Prof. Dr. Michél Willemsen
Radboud University Medical Center
Nijmegen, Netherlands