Associated Papers
Rare Presentations of GLUT1 Deficiency Syndrome: Rare Variants With Cortical Dysplasia in Two Unrelated Families.
Aydin H et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
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
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome.
Magrinelli F et al.
Neurology, 2020
Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling.
Mouhib H et al.
F1000research, 2019
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
Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency.
Akman CI et al.
Annals of Neurology, 2010
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.
Pascual JM et al.
The Journal of Biological Chemistry, 2008
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