title: Glucose Transporter 1 Deficiency: A Treatable Cause of Opsoclonus and Epileptic Myoclonus.
abstract: BACKGROUND
  Epileptic myoclonus in infancy is associated with various pathological conditions. In the absence of an identifiable central nervous system lesion, an underlying metabolic genetic cause is often suspected.
  
  
  METHODS
  We describe two infants with glucose transporter 1 deficiency syndrome who presented with epileptic myoclonus. One infant presented with an electroclinical phenotype mimicking benign myoclonic epilepsy of infancy; the other infant had a novel mutation and presented with opsoclonus and epileptic myoclonus with a robust response to high-dose steroids. Both infants began the ketogenic diet after the diagnosis of glucose transporter 1 deficiency syndrome, with good yet variable treatment responses.
  
  
  CONCLUSIONS
  These infants demonstrate that an evaluation for glucose transporter 1 deficiency syndrome is warranted in patients presenting with an electroclinical picture compatible with benign myoclonic epilepsy of infancy as well as in patients with intractable epilepsy who demonstrate a significant response to steroid therapy.
authors.affiliation: Department of Pediatric Neurology, Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, Arizona.
authors.forename: Brian
authors.initials: B
authors.lastname: Appavu
authors.affiliation: Department of Pediatric Neurology, Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, Arizona.
authors.forename: Tara
authors.initials: T
authors.lastname: Mangum
authors.affiliation: Division of Epilepsy, Department of Pediatric Neurology, Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, Arizona. Electronic address: mobeid@phoenixchildrens.com.
authors.forename: Makram
authors.initials: M
authors.lastname: Obeid
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000178:diet therapy* / Q000503:physiopathology*; D055423:Diet, Ketogenic; D004831:Epilepsies, Myoclonic / Q000178:diet therapy* / Q000209:etiology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*; D015835:Ocular Motility Disorders / Q000178:diet therapy* / Q000209:etiology / Q000503:physiopathology*
chemical_list: D009004:Monosaccharide Transport Proteins
keywords: GLUT1; developmental delays; epilepsy; myoclonus; opsoclonus