First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene
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AbstractGlucose 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. (C) 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
All Author(s) ListFung ELW, Ho YY, Hui JN, Wong JH, Ng TB, Fong NYF, Klepper J, Tsui KWS
Journal nameBrain and Development
Detailed descriptionTo ORKTS: doi: 10.1016/j.braindev.2010.03.009
Year2011
Month2
Day1
Volume Number33
Issue Number2
PublisherElsevier
Pages170 - 173
ISSN0387-7604
LanguagesEnglish-United Kingdom
KeywordsAtaxia; Cerebrospinal fluid; Epilepsy; Glucose transporter type 1 deficiency syndrome
Web of Science Subject CategoriesClinical Neurology; CLINICAL NEUROLOGY; Neurosciences & Neurology

Last updated on 2020-20-10 at 00:55