Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome. (4th March 2016)

• Record Type: Journal Article
• Authors: Mongin, Marie; Mezouar, Nicolas; Dodet, Pauline; Vidailhet, Marie; Roze, Emmanuel
• Editors: Louis, Elan D.
• Is Part Of: Tremor and other hyperkinetic movements. Volume 6(2016)
• Publication Date: 2016-03-04
• Subjects: Paroxysmal exercise-induced dyskinesia -- epilepsy -- GLUT1 deficiency -- SLC2A1 -- dystonia; Tremor -- Periodicals; Hyperkinesia -- Periodicals; 616.8
• DOI: 10.7916/D89W0F96
• Languages: English
• ISSNs: 2160-8288

Abstract

Background: Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1. Phenomenology Shown: Paroxysmal motor manifestations induced by exercise or fasting may be the main manifestations of glucose transporter type 1 deficiency syndrome. Educational Value: Proper identification of the paroxysmal events and early diagnosis is important since the disease is potentially treatable.