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Article

T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake.

Brain & development - 1 Apr 2011

Fujii Tatsuya, Morimoto Masafumi, Yoshioka Hiroshi, Ho Yuan-Yuan, Law Peggy P Y, Wang Dong, De Vivo Darryl C

Abstract excerpt

PURPOSE: Glucose transporter type 1 (Glut1) is expressed in vascular endothelial cells comprising blood-brain barrier. Glut1 deficiency syndrome is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile seizure, acquired microcephaly, developmental delay and ataxia. As Glut1 is also expressed in erythrocytes, the diagnosis is confirmed by a decreased uptake of...

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Identifiers

PMID: 20630673
DOI: 10.1016/j.braindev.2010.06.012

Genes

OMG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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