title: Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.
abstract: To report the case of a child with short absences and occasional myoclonias since infancy who was first diagnosed with an idiopathic generalized epilepsy, but was documented at follow-up to have a mild phenotype of glucose transporter type 1 deficiency syndrome. Unlike other reported cases of Glut-1 DS and epilepsy, this child had a normal development as well as a normal head growth and neurological examination. Early onset of seizures and later recognized episodes of mild confusion before meals together with persistent atypical EEG features and unexpected learning difficulties led to the diagnosis. Seizure control and neuropsychological improvements were obtained with a ketogenic diet.
authors.affiliation: Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. Eliane.Roulet-Perez@chuv.ch
authors.forename: Eliane
authors.initials: E
authors.lastname: Roulet-Perez
authors.forename: Diana
authors.initials: D
authors.lastname: Ballhausen
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafé
authors.forename: Stephanie
authors.initials: S
authors.lastname: Cronel-Ohayon
authors.forename: Malin
authors.initials: M
authors.lastname: Maeder-Ingvar
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis*; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000378:metabolism*; D004829:Epilepsy, Generalized / Q000175:diagnosis*; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D012720:Severity of Illness Index
chemical_list: D051272:Glucose Transporter Type 1