title: Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.
abstract: GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood.
authors.affiliation: Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
authors.forename: Susan
authors.initials: S
authors.lastname: Byrne
authors.forename: Jacinta
authors.initials: J
authors.lastname: Kearns
authors.forename: Ray
authors.initials: R
authors.lastname: Carolan
authors.forename: Joseph
authors.initials: J
authors.lastname: Mc Menamin
authors.forename: Joerg
authors.initials: J
authors.lastname: Klepper
authors.forename: David
authors.initials: D
authors.lastname: Webb
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D002239:Carbohydrate Metabolism, Inborn Errors / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D004351:Drug Resistance; D004569:Electroencephalography / Q000706:statistics & numerical data; D004832:Epilepsy, Absence / Q000188:drug therapy* / Q000453:epidemiology*; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000453:epidemiology / Q000235:genetics; D009004:Monosaccharide Transport Proteins / Q000172:deficiency / Q000235:genetics; D010641:Phenotype
chemical_list: D000927:Anticonvulsants; D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins