Associated Papers
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.
Mastrangelo M et al.
European Journal of Pediatrics, 2024
38954008 (PubMed )
Supplement: 431_2024_5657_MOESM2_ESM.xlsx › Valutazione_varianti
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SLC2A1
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.
Nicita F et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2019
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
iMusta4SLC: Database for the structural property and variations of solute carrier transporters.
Higuchi A et al.
Biophysics and Physicobiology, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
Wang Y et al.
Scientific Reports, 2017
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?
Lebon S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Molecular Dynamics Simulations of the Human Glucose Transporter GLUT1.
Park MS
Plos One, 2015
Suppression of conformation-compromised mutants of Salmonella enterica serovar Typhimurium MelB.
Amin A et al.
Journal of Bacteriology, 2014
Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.
Gramer G et al.
Neuropediatrics, 2012
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG et al.
Brain : a Journal of Neurology, 2010
Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.
Szczepanik E et al.
Developmental Period Medicine, 0
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