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Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome

Mongin, Marie; Mezouar, Nicholas; Dodet, Pauline; Vidailhet, Marie; Roze, Emmanuel

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.

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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D89W0F96

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Publisher
The Center for Digital Research and Scholarship
Published Here
November 2, 2016