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 hypoglycorrhachia. Tremor was recently shown to be part of the phenotype, but its clinical and electrophysiological features have...
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