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Article

[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome].

Revista de neurologia - 1 Jan 2000

Pascual J M, Lecumberri B, Wang D, Yang R, Engelstad K, De Vivo D C

Abstract excerpt

AIM: To define this genetic syndrome. DEVELOPMENT: The constellation of infantile epilepsy, acquired microcephaly and hypoglychorrachia is characteristic of glucose transporter type 1 (Glut1) deficiency syndrome, a prototype neurometabolic disorder caused by inheritable mutations in the gene SLC2A1. All known mutations reduce the function of Glut1 in the blood brain barrier and thus limit brain glucose...

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Share to Blood-Brain Barrier
Share to Brain Diseases, Metabolic, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Monosaccharide Transport Proteins

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Source

Identifiers

PMID: 15152356

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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