title: Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.
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.
authors.affiliation: Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel. afawi@bgu.ac.il
authors.forename: Zaid
authors.initials: Z
authors.lastname: Afawi
authors.forename: Arvid
authors.initials: A
authors.lastname: Suls
authors.forename: Dana
authors.initials: D
authors.lastname: Ekstein
authors.forename: Sara
authors.initials: S
authors.lastname: Kivity
authors.forename: Miriam Y
authors.initials: MY
authors.lastname: Neufeld
authors.forename: Karen
authors.initials: K
authors.lastname: Oliver
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
authors.forename: Amos D
authors.initials: AD
authors.lastname: Korczyn
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001786:Blood Glucose / Q000378:metabolism; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D004569:Electroencephalography / Q000706:statistics & numerical data; D005190:Family; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index
chemical_list: D001786:Blood Glucose; D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human