ReviewAnnals of clinical and translational neurology2019
Therapeutic strategies for glucose transporter 1 deficiency syndrome.
Review in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Movement disorders in GLUT1 deficiency syndrome: a systematic review of the literature.Journal of neurology · 2026Pooled it
- Female-specific alterations in insulin dynamics are associated with glucose tolerance in a Glut1DS mouse model.Disease models & mechanisms · 2026Article
- Efficacy and safety evaluation of ketogenic diet therapy in patients with glucose transporter type 1 deficiency syndrome.Frontiers in nutrition · 2026Article
- Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.Journal of innate immunity · 2026Review
- Transgenic expression of the human Glucose Transporter1 (GLUT1) gene locus reduces disease burden in Glut1 deficiency syndrome model mice.Neurobiology of disease · 2025Article
- Article
- Metabolism, a Blossoming Target for Small-Molecule Anticancer Drugs.Molecules (Basel, Switzerland) · 2025Review
- Progress in Understanding the Regulation of Glucose and Fructose Metabolism.Annual review of nutrition · 2025Review
- Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.Journal of inherited metabolic disease · 2025Review
- Seizure and redox rescue in a model of glucose transport deficiency.PLoS computational biology · 2025Article
- Spatiotemporal diversity in molecular and functional abnormalities in the mdx dystrophic brain.Molecular medicine (Cambridge, Mass.) · 2025Article
- The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.The Lancet regional health. Western Pacific · 2025Article
- Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.World journal of pediatrics : WJP · 2025Review
- Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal.Epilepsia open · 2025Review
- A claudin5-binding peptide enhances the permeability of the blood-brain barrier in vitro.Science advances · 2025Article
- Inherited metabolic epilepsies-established diseases, new approaches.Epilepsia open · 2024Review
- Dietary management and access to treatment for patients with glucose deficiency syndrome type 1: an overview review with focus on the European regulatory framework.European journal of clinical nutrition · 2024Review
- Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.Epilepsia open · 2024Observational
- Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations: a single-center single-arm retrospective study.World journal of pediatrics : WJP · 2024Article
- Alzheimer's disease brain endothelial-like cells reveal differential drug transporter expression and modulation by potentially therapeutic focused ultrasound.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Proper development and function of the mammalian brain is critically dependent on a steady supply of its chief energy source, glucose. Such supply is mediated by the glucose transporter 1 (Glut1) protein. Paucity of the protein stemming from mutations in the associated SLC2A1 gene deprives the brain of glucose and triggers the infantile-onset neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). Considering the monogenic nature of Glut1 DS, the disease is relatively straightforward to model and thus study. Accordingly, Glut1 DS serves as a convenient paradigm to investigate the more general cellular and molecular consequences of brain energy failure. Here, we review how Glut1 DS models have informed the biology of a prototypical brain energy failure syndrome, how these models are facilitating the development of promising new treatments for the human disease, and how important insights might emerge from the study of Glut1 DS to illuminate the myriad conditions involving the Glut1 protein.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.