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Article

Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.

Journal of inherited metabolic disease - 1 Apr 2011

Roubergue Anne, Apartis Emmanuelle, Mesnage Valérie, Doummar Diane, Trocello Jean-Marc, Roze Emmanuel, Taieb Guillaume, De Villemeur Thierry Billette, Vuillaumier-Barrot Sandrine, Vidailhet Marie, Levy Richard

Abstract excerpt

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 hypoglycor...

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Identifiers

PMID: 21229316
DOI: 10.1007/s10545-010-9264-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21229316-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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