Associated Papers
Adult-onset non-kinesigenic paroxysmal dyskinesia in GLUT1 deficiency syndrome.
Alves JM et al.
Parkinsonism & Related Disorders, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants
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
Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome.
Magrinelli F et al.
Neurology, 2020
Insights into Substrate and Inhibitor Selectivity among Human GLUT Transporters through Comparative Modeling and Molecular Docking.
Ferreira RS et al.
Acs Omega, 2019
Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.
Lee WW et al.
Journal of Korean Medical Science, 2018
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M et al.
European Journal of Medical Genetics, 2015
Severe familial paroxysmal exercise-induced dyskinesia.
Tacik P et al.
Journal of Neurology, 2014
Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: a case report.
Baschieri F et al.
Journal of Neurology, 2014
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
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009
Paroxysmal Nonepileptic Events in Glut1 Deficiency.
Klepper J et al.
Movement Disorders Clinical Practice, 0
Select a paper to view details