Associated Papers
Genetic and Clinical Features of SLC2A1-Related Paroxysmal Exercise-Induced Dyskinesia.
Xu JJ et al.
Pediatric Neurology, 2025
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Klepper J
Journal of Inherited Metabolic Disease, 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
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
Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases.
Olivotto S et al.
Orphanet Journal of Rare Diseases, 2022
The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan.
Vaudano AE et al.
Human Brain Mapping, 2020
Oral abstracts of the 22nd International AIDS Conference, 23-27 July 2018, Amsterdam, the Netherlands.
Unknown Author
Journal of the International Aids Society, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
The face of Glut1-DS patients: A 3D Craniofacial Morphometric Analysis.
Pucciarelli V et al.
Clinical Anatomy (new York, N.y.), 2017
Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.
Vaudano AE et al.
Neuroimage. Clinical, 2017
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
De Giorgis V et al.
Seizure, 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
Severe familial paroxysmal exercise-induced dyskinesia.
Tacik P et al.
Journal of Neurology, 2014
Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.
Bovi T et al.
Parkinsonism & Related Disorders, 2011
Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.
Urbizu A et al.
Journal of the Neurological Sciences, 2010