ArticleAnnals of neurology2010
Glut1 deficiency: inheritance pattern determined by haploinsufficiency.
Article in Annals of neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Movement disorders in GLUT1 deficiency syndrome: a systematic review of the literature.Journal of neurology · 2026Pooled it
- The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.European journal of pediatrics · 2024Pooled it
- A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.Epilepsia · 2022Trial
- Generative Chemistry Platform for Small Molecules Targeting RNA: A Case Study for Chemical Optimization.Computational and structural biotechnology journal · 2026Article
- Human Glucose Transporters in Health and Selected Neurodegenerative Diseases.International journal of molecular sciences · 2025Review
- Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.Journal of inherited metabolic disease · 2025Review
- Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients.World journal of pediatrics : WJP · 2025Article
- Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant.European journal of neurology · 2024Article
- Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis.International journal of molecular sciences · 2022Article
- How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.Journal of inherited metabolic disease · 2022Review
- One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome.Biomedicines · 2022Review
- Brain Endothelial Cells: Metabolic Flux and Energy Metabolism.Handbook of experimental pharmacology · 2022Article
- Solute carrier transporter disease and developmental and epileptic encephalopathy.Frontiers in neurology · 2022Review
- The role of SLC transporters for brain health and disease.Cellular and molecular life sciences : CMLS · 2021Review
- Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report.BMC medical genomics · 2021Article
- Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review.Frontiers in genetics · 2021Article
- Glucose transporters in brain in health and disease.Pflugers Archiv : European journal of physiology · 2020Review
- Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.International journal of molecular sciences · 2020Review
- Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.The Journal of membrane biology · 2020Review
- A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review.Frontiers in neurology · 2020Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Two families manifesting Glut1 deficiency syndrome (DS) as an autosomal recessive trait are described. In 1 family, a severely affected boy inherited a mutated allele from his asymptomatic heterozygous mother. A de novo mutation developed in the paternal allele, producing compound heterozygosity. In another family, 2 mildly affected sisters inherited mutations from their asymptomatic heterozygous consanguineous parents. Red blood cell glucose uptake residual activity, a surrogate of haploinsufficiency, correlated with the clinical severity. These cases demonstrate that Glut1 DS may present as an autosomal recessive trait. The clinical pattern of inheritance is determined by the relative pathogenicity of the mutation and the resulting degree of haploinsufficiency.
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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.