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Epilepsia. 2010 Dec;51(12):2466-9. doi: 10.1111/j.1528-1167.2010.02726.x. Epub 2010 Sep 30.

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.

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1
Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel. afawi@bgu.ac.il

Abstract

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 in five living affected members, but absent in three nonaffected first-degree members and in one subject believed to be a phenocopy. The clinical picture of mild epilepsy with onset in adolescence or early adulthood plus PED should raise a suspicion of GLUT1 deficiency.

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