Associated Papers
D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS).
Amer A et al.
Jimd Reports, 2025
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
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Arsov T et al.
Epilepsia, 2012
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