Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche, Zaid Afawi, Wim Vandenberghe, Amos D Korczyn, Samuel F Berkovic, Dana Ekstein, Sara Kivity, Philippe Ryvlin, Lieve R F Claes, Liesbet Deprez, Snezana Maljevic, Alberto Vargas, Tine Van Dyck, Dirk Goossens, Jurgen Del-Favero, Koen Van Laere, Peter De Jonghe, Wim Van Paesschen
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 analysis we screened SLC2A1, encoding the glucose transporter of the blood-brain-barrier, GLUT1 and identified heterozygous missense and frameshift mutations segregating in this and three other nuclear families with a similar phenotype...
July 2008: Brain