Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1. Paroxysmal motor manifestations induced by exercise or fasting may be the main manifestations of glucose transporter type 1 deficiency syndrome. Proper identification of the paroxysmal events and early diagnosis is important since the disease is potentially treatable.