Associated Papers
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
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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
Crystal structure of the human glucose transporter GLUT1.
Deng D et al.
Nature, 2014
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
Anheim M et al.
Journal of Neurology, 2011
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