Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
About this item
Full title
Author / Creator
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
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Scope and Contents
Contents
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is due to heterozygous mutation of the glucose transporter type 1 gene (
GLUT1/SLC2A1
). GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (PED), as well as seizures, mental retardation and hypoglycorrhachia. Tremor was recently shown to be part...
Alternative Titles
Full title
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_858777537
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_858777537
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-010-9264-6
