title: First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome).
abstract: BACKGROUND
  We evaluated the long-term efficacy and tolerability of the orphan drug rufinamide (RUF) in children with pharmacoresistant myoclonic-astatic epilepsy (MAE, Doose syndrome).
  
  
  METHODS
  This was a retrospective European multicenter study on eight patients who had started an intention-to-treat trial of RUF between July 2007 and June 2010. Clinical information was collected via questionnaire. Responder rate was defined as reduction of seizure frequency ≥50% in comparison to four weeks before starting RUF. Maximum follow-up was eighteen months.
  
  
  RESULTS
  Responder rates were 7/8 patients after 3 months, 6/8 patients after 6 months and 5/8 patients after 12 months. RUF seemed particularly effective in the prevention of myoclonic-astatic seizures (comparable with drop attacks in Lennox-Gastaut-Syndrome, for which RUF is particularly effective). Some loss of efficacy was noticed in the long-term observation. Side-effects occurred in two patients. Seizure aggravation was not observed.
  
  
  CONCLUSIONS
  RUF seems to be a promising therapeutic option in children with MAE. Further studies are warranted to confirm these first observations.
authors.affiliation: Clinic for Neuropediatrics and Neurological Rehabilitation, Epilepsy-Center for Children and Adolescents, Vogtareuth, Germany.
authors.forename: C
authors.initials: C
authors.lastname: von Stülpnagel
authors.forename: G
authors.initials: G
authors.lastname: Coppola
authors.forename: P
authors.initials: P
authors.lastname: Striano
authors.forename: A
authors.initials: A
authors.lastname: Müller
authors.forename: M
authors.initials: M
authors.lastname: Staudt
authors.forename: G
authors.initials: G
authors.lastname: Kluger
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D004831:Epilepsies, Myoclonic / Q000188:drug therapy*; D005260:Female; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D016896:Treatment Outcome; D014230:Triazoles / Q000627:therapeutic use*; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; D014230:Triazoles; C079703:rufinamide