Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

Tommaso Bovi, Alfonso Fasano, Ina Juergenson, Cinzia Gellera, Barbara Castellotti, Elena Fontana, Michele Tinazzi

Dipartimento di Scienze Neurologiche e della Visione, Azienda Ospedaliera-Universitaria Integrata di Verona, Italy. tommaso.bovi@gmail.com

Parkinsonism & related disorders 2011 Jul

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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. Copyright © 2011 Elsevier Ltd. All rights reserved.

Citation

Tommaso Bovi, Alfonso Fasano, Ina Juergenson, Cinzia Gellera, Barbara Castellotti, Elena Fontana, Michele Tinazzi. Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype. Parkinsonism & related disorders. 2011 Jul;17(6):479-81