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Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome Cover

Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome

Open Access
|Mar 2016

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.

DOI: https://doi.org/10.5334/tohm.328 | Journal eISSN: 2160-8288
Language: English
Submitted on: Jan 28, 2016
Accepted on: Feb 11, 2016
Published on: Mar 4, 2016
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2016 Marie Mongin, Nicolas Mezouar, Pauline Dodet, Marie Vidailhet, Emmanuel Roze, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.