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Brain Dev. 2011 Feb;33(2):170-3. doi: 10.1016/j.braindev.2010.03.009. Epub 2010 Apr 22.

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

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  • 1Department of Paediatrics, The Chinese University of Hong Kong, China. eva_fung@cuhk.edu.hk

Abstract

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.

PMID:
20417043
DOI:
10.1016/j.braindev.2010.03.009
[PubMed - indexed for MEDLINE]
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