title: Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
abstract: OBJECTIVE
  To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency.
  
  
  METHODS
  Genetic analysis.
  
  
  METHODS
  Ambulatory and hospitalized care.
  
  
  METHODS
  Eighty-four unrelated probands with MAE were phenotyped and SLC2A1 was sequenced and analyzed by multiplex ligation-dependent probe amplification. Any identified mutations were then screened in controls.
  
  
  METHODS
  Any SLC2A1 mutations.
  
  
  RESULTS
  Four of 84 probands with MAE had a mutation of SLC2A1 on sequencing. Multiplex ligation-dependent probe amplification analysis did not reveal any genomic rearrangements in 75 of the remaining cases; 5 could not be tested. Two patients with MAE with SLC2A1 mutations also developed paroxysmal exertional dyskinesia in childhood.
  
  
  CONCLUSIONS
  Five percent of our patients with MAE had SLC2A1 mutations, suggesting that patients with MAE should be tested for GLUT1 deficiency. Diagnosis of GLUT1 deficiency is a strong indication for early use of the ketogenic diet, which may substantially improve outcome of this severe disorder.
authors.affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, Australia.
authors.forename: Saul A
authors.initials: SA
authors.lastname: Mullen
authors.forename: Carla
authors.initials: C
authors.lastname: Marini
authors.forename: Arvid
authors.initials: A
authors.lastname: Suls
authors.forename: Davide
authors.initials: D
authors.lastname: Mei
authors.forename: Elvio
authors.initials: E
authors.lastname: Della Giustina
authors.forename: Daniela
authors.initials: D
authors.lastname: Buti
authors.forename: Todor
authors.initials: T
authors.lastname: Arsov
authors.forename: John
authors.initials: J
authors.lastname: Damiano
authors.forename: Kate
authors.initials: K
authors.lastname: Lawrence
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D055423:Diet, Ketogenic / Q000379:methods; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics*; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D012720:Severity of Illness Index; D016896:Treatment Outcome
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human