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
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
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
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Gras D et al.
Annals of Neurology, 2017
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M et al.
European Journal of Medical Genetics, 2015
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