ReviewInternational journal of molecular sciences2018
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Review in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 46 citations in OpenAlex.
- The integration of plasma non-target metabolomics and lipidomics analysis for the discovery of global developmental delay/intellectual disability biomarkers.Frontiers in cellular neuroscience · 2026Article
- Article
- Ketogenic diet therapy for the treatment of pediatric epilepsy.Epileptic disorders : international epilepsy journal with videotape · 2025Review
- The interplay between nutrigenomics and low-carbohydrate ketogenic diets in personalized healthcare.Frontiers in nutrition · 2025Review
- Impact of Kiwifruit Consumption on Cholesterol Metabolism in Rat Liver: A Gene Expression Analysis in Induced Hypercholesterolemia.Nutrients · 2024Article
- Treatable Ataxias: How to Find the Needle in the Haystack?Journal of movement disorders · 2022Article
- Nutrition interventions in congenital disorders of glycosylation.Trends in molecular medicine · 2022Review
- One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome.Biomedicines · 2022Review
- Case report: Functional characterization of aFrontiers in genetics · 2022Article
- A Novel Variant of theFrontiers in genetics · 2022Article
- Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome.Annals of clinical and translational neurology · 2021Article
- Characterization of Speech and Language Phenotype in GLUT1DS.Children (Basel, Switzerland) · 2021Article
- Families' Perception of Classic Ketogenic Diet Management in Acute Medical Conditions: A Web-Based Survey.Nutrients · 2020Article
- Treating epilepsy with options other than antiepileptic medications.Neurosciences (Riyadh, Saudi Arabia) · 2020Review
- A Novel Intronic Variant inJournal of epilepsy research · 2020Article
- Pharmacogenomics of Cognitive Dysfunction and Neuropsychiatric Disorders in Dementia.International journal of molecular sciences · 2020Review
- From Genetic Testing to Precision Medicine in Epilepsy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020Review
- An Epistatic Interaction betweenCells · 2019Article
- Role of the Angiotensin Pathway and its Target Therapy in Epilepsy Management.International journal of molecular sciences · 2019Review
- A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND).Frontiers in neurology · 2019Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) and mutations of the GLUT1/SLC2A2 gene results in the failure of glucose transport, which is related with a glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS). GLUT1 deficiency syndrome is a treatable disorder of glucose transport into the brain caused by a variety of mutations in the SLC2A1 gene which are the cause of different neurological disorders also with different types of epilepsy and related clinical phenotypes. Since patients continue to experience seizures due to a pharmacoresistance, an early clinical diagnosis associated with specific genetic testing in SLC2A1 pathogenic variants in clinical phenotypes could predict pure drug response and might improve safety and efficacy of treatment with the initiation of an alternative energy source including ketogenic or analog diets in such patients providing individualized strategy approaches.
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