Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

doi:10.1093/brain/awn113

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Article

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Brain : a journal of neurology - 1 Jul 2008

Suls Arvid, Dedeken Peter, Goffin Karolien, Van Esch Hilde, Dupont Patrick, Cassiman David, Kempfle Judith, Wuttke Thomas V, Weber Yvonne, Lerche Holger, Afawi Zaid, Vandenberghe Wim, Korczyn Amos D, Berkovic Samuel F, Ekstein Dana, Kivity Sara, Ryvlin Philippe, Claes Lieve R F, Deprez Liesbet, Maljevic Snezana, Vargas Alberto, Van Dyck Tine, Goossens Dirk, Del-Favero Jurgen, Van Laere Koen, De Jonghe Peter, Van Paesschen Wim

Abstract excerpt

Paroxysmal exercise-induced dyskinesia (PED) can occur in isolation or in association with epilepsy, but the genetic causes and pathophysiological mechanisms are still poorly understood. We performed a clinical evaluation and genetic analysis in a five-generation family with co-occurrence of PED and epilepsy (n = 39), suggesting that this combination represents a clinical entity. Based on a whole genome linkage...

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PMID: 18577546
DOI: 10.1093/brain/awn113
PMCID: PMC2442425

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