title: Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene.
abstract: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is an inborn error of brain energy metabolism characterized by impaired glucose transport into the brain. A classic phenotype comprising epilepsy, mental retardation, an often paroxysmal disorder, and several subtypes has been described. Although typical absences are frequent in GLUT1DS, myoclonic absence seizures are rarely reported. Here we describe a novel Turkish patient with a hot-spot mutation (R126C) in the SLC2A1 gene who presented with unusual myoclonic absence epilepsy and paroxysmal shivering. The case is discussed in view of eight other cases carrying the R126C mutation.
authors.affiliation: Child Neurology Division, Pediatrics Department, Ege University Faculty of Medicine, Bornova, İzmir, Turkey. sarenur.gokben@ege.edu.tr
authors.forename: Sarenur
authors.initials: S
authors.lastname: Gökben
authors.forename: Sanem
authors.initials: S
authors.lastname: Yılmaz
authors.forename: Joerg
authors.initials: J
authors.lastname: Klepper
authors.forename: Gül
authors.initials: G
authors.lastname: Serdaroğlu
authors.forename: Hasan
authors.initials: H
authors.lastname: Tekgül
mesh_terms: D001120:Arginine / Q000235:genetics*; D002648:Child; D003545:Cysteine / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human; D001120:Arginine; D003545:Cysteine