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Article

Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant.

European journal of neurology - 1 Aug 2024

Giugno Alessia, Falcone Elena, Fortunato Francesco, Sammarra Ilaria, Procopio Radha, Gagliardi Monica, Bauleo Alessia, de Stefano Laura, Martino Iolanda, Gambardella Antonio

Abstract excerpt

BACKGROUND AND PURPOSE: Glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1-DS) is a metabolic disorder due to reduced expression of GLUT1, a glucose transporter of the central nervous system. GLUT1-DS is caused by heterozygous SLC2A1 variants that mostly arise de novo. Here, we report a large family with heterogeneous phenotypes related to a novel SLC2A1 variant. METHODS: We present clinical and genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38803061
DOI: 10.1111/ene.16325
PMCID: PMC11235872

Genes

SLC2A1

Variants

Provenance

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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