Document Detail


Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: A novel GLUT-1 mutation with benign phenotype.
MedLine Citation:
PMID:  21530357     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Paroxysmal exercise-induced dyskinesia (PED) is a rare form of dystonia induced by prolonged exercise, usually involving lower limbs. PED has been recently described as a possible clinical manifestation of mutations of SLC2A1 gene, encoding for the glucose transport GLUT-1. We report a case of a young woman with a mild form of PED associated with self-limiting partial epilepsy. She carries a novel sporadic heterozygous mutation of the SLC2A1 gene. Diagnostic difficulties and possible treatment with carbamazepine are discussed.
Authors:
Tommaso Bovi; Alfonso Fasano; Ina Juergenson; Cinzia Gellera; Barbara Castellotti; Elena Fontana; Michele Tinazzi
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-4-27
Journal Detail:
Title:  Parkinsonism & related disorders     Volume:  -     ISSN:  1873-5126     ISO Abbreviation:  -     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-5-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9513583     Medline TA:  Parkinsonism Relat Disord     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Elsevier Ltd. All rights reserved.
Affiliation:
Dipartimento di Scienze Neurologiche e della Visione, Azienda Ospedaliera-Universitaria Integrata di Verona, Italy.
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