title: Epilepsy in patients with Cornelia de Lange syndrome: a clinical series.
abstract: OBJECTIVE
  Cornelia de Lange (CdLS) syndrome is characterized by multiple congenital anomalies and mental retardation. Epilepsy is a clinical feature found in about 20% of cases, but there are no data about its electroclinical features and long-term outcome.
  
  
  METHODS
  we describe a clinical series of fourteen Caucasian CdLS paediatric patients who developed epilepsy, with special reference to the long term prognosis.
  
  
  RESULTS
  Epilepsy manifested between age 0.6 and 16.3 years. The majority of patients (64.3%) presented with partial seizures and interictal EEGs mainly revealed focal epileptic paroxysms involving temporal and parietal areas. Thirteen of 14 children became seizure-free with treatment. Valproate monotherapy was used in eight patients (57.1%), controlling seizures in seven. Otherwise monotherapy with topiramate, levetiracetam, carbamazepine and oxcarbazepine appeared to be effective in controlling seizures in four cases. At the end of the follow-up (age range, 7.3-24.2 years; follow-up, 8.2±3.9 years), thirteen patients were seizure free (three still in therapy), while in one patient seizures were not controlled.
  
  
  CONCLUSIONS
  Partial epilepsy is the most common type of epilepsy in CdLS patients. In the majority of cases the prognosis of this epilepsy is favourable and therapy can be withdrawn after few years of complete seizure control.
authors.affiliation: Department of Pediatrics, University of Chieti, Chieti, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.forename: Sergio
authors.initials: S
authors.lastname: Agostinelli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Prezioso
authors.forename: Giangennaro
authors.initials: G
authors.lastname: Coppola
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Capovilla
authors.forename: Antonino
authors.initials: A
authors.lastname: Romeo
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Pasquale
authors.initials: P
authors.lastname: Parisi
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
authors.forename: Thomas
authors.initials: T
authors.lastname: Foiadelli
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
authors.forename: Salvatore
authors.initials: S
authors.lastname: Savasta
mesh_terms: D000293:Adolescent; D002220:Carbamazepine / Q000031:analogs & derivatives / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D004569:Electroencephalography / Q000379:methods; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000453:epidemiology* / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D000078330:Oxcarbazepine; D012640:Seizures / Q000175:diagnosis / Q000453:epidemiology* / Q000209:etiology; D016896:Treatment Outcome; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D002220:Carbamazepine; D014635:Valproic Acid; D000078330:Oxcarbazepine