Glucose transporter 1 gene mutations cause sporadic PED

Background: Paroxysmal exercise-induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35-p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. Methods: We performed mutational analysis in ten patients with apparently sporadic PED. Results: We identified two novel GLUT1 mutations, at least one likely to be de-novo, in two of our pa…