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
Structural comparison of GLUT1 to GLUT3 reveal transport regulation mechanism in sugar porter family.
Custódio TF et al.
Life Science Alliance, 2021
33536238 (PubMed )
Supplement: LSA-2020-00858_review_history.pdf
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
Development of a rapid functional assay that predicts GLUT1 disease severity.
Zaman SM et al.
Neurology. Genetics, 2018
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Weak_segregation_support
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
Lee EE et al.
Molecular Cell, 2015
Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.
Wolking S et al.
Journal of Neurology, 2014
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Suls A et al.
Annals of Neurology, 2009
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