[Glucose transporter type 1 (Glut1) deficiency syndrome (Glut1 DS, OMIM: #606777) is characterized by infantile seizures, acquired microcephaly, developmental delay, hypoglycorrhachia (CSF glucose <40 mg/dL), and decreased erythrocyte glucose uptake (56.1 +/- 17% of control).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE