title: Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.
abstract: 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.affiliation: Dipartimento di Scienze Neurologiche e della Visione, Azienda Ospedaliera-Universitaria Integrata di Verona, Italy. tommaso.bovi@gmail.com
authors.forename: Tommaso
authors.initials: T
authors.lastname: Bovi
authors.forename: Alfonso
authors.initials: A
authors.lastname: Fasano
authors.forename: Ina
authors.initials: I
authors.lastname: Juergenson
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.forename: Barbara
authors.initials: B
authors.lastname: Castellotti
authors.forename: Elena
authors.initials: E
authors.lastname: Fontana
authors.forename: Michele
authors.initials: M
authors.lastname: Tinazzi
mesh_terms: D000328:Adult; D002819:Chorea / Q000150:complications / Q000235:genetics*; D020938:Epilepsy, Partial, Motor / Q000150:complications / Q000235:genetics*; D027342:Excitatory Amino Acid Transporter 2 / Q000235:genetics*; D015444:Exercise / Q000502:physiology*; D005260:Female; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D027342:Excitatory Amino Acid Transporter 2