Associated Papers
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
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M et al.
European Journal of Medical Genetics, 2015
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.
Roubergue A et al.
Journal of Inherited Metabolic Disease, 2011
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