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
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.
Kegele J et al.
Frontiers in Neurology, 2021
Development of a rapid functional assay that predicts GLUT1 disease severity.
Zaman SM et al.
Neurology. Genetics, 2018
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
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR et al.
Brain : a Journal of Neurology, 2015
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
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