Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome

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 deficien...

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Autores principales: Mongin, Marie, Mezouar, Nicolas, Dodet, Pauline, Vidailhet, Marie, Roze, Emmanuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2016
Materias:
Video Abstracts
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790204/
https://www.ncbi.nlm.nih.gov/pubmed/27351150
http://dx.doi.org/10.7916/D89W0F96
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author Mongin, Marie
Mezouar, Nicolas
Dodet, Pauline
Vidailhet, Marie
Roze, Emmanuel
author_facet Mongin, Marie
Mezouar, Nicolas
Dodet, Pauline
Vidailhet, Marie
Roze, Emmanuel
author_sort Mongin, Marie
collection PubMed
description 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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spelling pubmed-47902042016-03-17 Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome Mongin, Marie Mezouar, Nicolas Dodet, Pauline Vidailhet, Marie Roze, Emmanuel Tremor Other Hyperkinet Mov (N Y) Video Abstracts 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. Columbia University Libraries/Information Services 2016-03-04 /pmc/articles/PMC4790204/ /pubmed/27351150 http://dx.doi.org/10.7916/D89W0F96 Text en http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommerical–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original author and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.
spellingShingle Video Abstracts
Mongin, Marie
Mezouar, Nicolas
Dodet, Pauline
Vidailhet, Marie
Roze, Emmanuel
Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
title Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
title_full Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
title_fullStr Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
title_full_unstemmed Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
title_short Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
title_sort paroxysmal exercise-induced dyskinesias caused by glut1 deficiency syndrome
topic Video Abstracts
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790204/
https://www.ncbi.nlm.nih.gov/pubmed/27351150
http://dx.doi.org/10.7916/D89W0F96
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