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Article

First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene.

Brain & development - 1 Feb 2011

Fung Eva Lai-wah, Ho Yuan Yuan, Hui Joannie, Wong Jack Ho, Ng Tzi-Bun, Fong Nga-Yin Fion, Klepper Joerg, Tsui Kwok-Wing Stephen

Abstract excerpt

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is increasingly recognized as a cause of various neurological disorders but a high index of suspicion is important to make the diagnosis. We report two Chinese patients with GLUT1DS, one of which had a novel mutation in the SLC2A1 gene.

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Source

Identifiers

PMID: 20417043
DOI: 10.1016/j.braindev.2010.03.009

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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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