title: When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?
abstract: GLUT1 deficiency (GLUT1D) has recently been identified as an important cause of generalized epilepsies in childhood. As it is a treatable condition, it is crucial to determine which patients should be investigated.
  
  
  METHODS
  We analyzed SLC2A1 for mutations in a group of 93 unrelated children with generalized epilepsies. Fasting lumbar puncture was performed following the identification of a mutation. We compared our results with a systematic review of 7 publications of series of patients with generalized epilepsies screened for SLC2A1 mutations.
  
  
  RESULTS
  We found 2/93 (2.1%) patients with a SLC2A1 mutation. One, carrying a novel de novo deletion had epilepsy with myoclonic-atonic seizures (MAE), mild slowing of head growth, choreiform movements and developmental delay. The other, with a paternally inherited missense mutation, had childhood absence epilepsy with atypical EEG features and paroxysmal exercise-induced dyskinesia (PED) initially misdiagnosed as myoclonic seizures. Out of a total of 1110 screened patients with generalized epilepsies from 7 studies, 2.4% (29/1110) had GLUT1D. This rate was higher (5.6%) among 303 patients with early onset absence epilepsy (EOAE) from 4 studies. About 50% of GLUT1D patients had abnormal movements and 41% a family history of seizures, abnormal movements or both.
  
  
  CONCLUSIONS
  GLUT1D is most likely to be found in MAE and in EOAE. The probability of finding GLUT1D in the classical idiopathic generalized epilepsies is very low. Pointers to GLUT1D include an increase in seizures before meals, cognitive impairment, or PED which can easily be overlooked.
authors.affiliation: Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. Electronic address: Sebastien.Lebon@chuv.ch.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Lebon
authors.affiliation: Centre for Molecular Diseases, Lausanne University Hospital, Lausanne, Switzerland.
authors.forename: Philippe
authors.initials: P
authors.lastname: Suarez
authors.affiliation: Centre for Molecular Diseases, Lausanne University Hospital, Lausanne, Switzerland.
authors.forename: Semsa
authors.initials: S
authors.lastname: Alija
authors.affiliation: Child Neurology, University Hospitals, Geneva, Switzerland.
authors.forename: Christian M
authors.initials: CM
authors.lastname: Korff
authors.affiliation: Child Neurology, University Hospitals, Geneva, Switzerland.
authors.forename: Joël
authors.initials: J
authors.lastname: Fluss
authors.affiliation: Children's Hospital Neuchatel, Neuchatel, Switzerland.
authors.forename: Danielle
authors.initials: D
authors.lastname: Mercati
authors.affiliation: Pediatric Neurology and Development Unit, University Children's Hospital, Basel, Switzerland.
authors.forename: Alexandre N
authors.initials: AN
authors.lastname: Datta
authors.affiliation: Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: Claudia
authors.initials: C
authors.lastname: Poloni
authors.affiliation: Children's Unit, Hôpital du Valais, Sion, Switzerland.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Marcoz
authors.affiliation: Centre for Molecular Diseases, Lausanne University Hospital, Lausanne, Switzerland.
authors.forename: Ana Belinda
authors.initials: AB
authors.lastname: Campos-Xavier
authors.affiliation: Centre for Molecular Diseases, Lausanne University Hospital, Lausanne, Switzerland.
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafé
authors.affiliation: Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: Eliane
authors.initials: E
authors.lastname: Roulet-Perez
mesh_terms: D002648:Child; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D004832:Epilepsy, Absence / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D017384:Sequence Deletion
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human
keywords: GLUT1 deficiency; Generalized epilepsy; SLC2A1