Article
Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.
Epilepsia - 1 Dec 2010
Afawi Zaid, Suls Arvid, Ekstein Dana, Kivity Sara, Neufeld Miriam Y, Oliver Karen, De Jonghe Peter, Korczyn Amos D, Berkovic Samuel F
Abstract excerpt
Paroxysmal exercise-induced dyskinesia (PED) and epilepsy without intellectual disability have recently been recognized as manifestations of deficiency of the glucose transporter GLUT1, due to mutations in the gene SLC2A1. We describe a family with six definitely affected members in two generations. Two had PED, three had epilepsy, and one had both. A missense mutation in SLC2A1 (c.950A>C; p.N317T) was detected...
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