Epilepsy in patients with Cornelia de Lange syndrome: A clinical series

Alberto Verrotti, Sergio Agostinelli, Giovanni Prezioso, Giangennaro Coppola, Giuseppe Capovilla, Antonino Romeo, Pasquale Striano, Pasquale Parisi, Salvatore Grosso, Alberto Spalice, Thomas Foiadelli, Paolo Curatolo, Francesco Chiarelli, Salvatore Savasta

Research output: Contribution to journalArticlepeer-review


Purpose: 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 In the majority of cases the prognosis of this epilepsy is favourable and therapy can be withdrawn after few years of complete seizure control.

Original languageEnglish
Pages (from-to)356-359
Number of pages4
Issue number5
Publication statusPublished - 2013


  • Antiepileptic drug
  • Cornelia de Lange syndrome
  • Epilepsy
  • Long-term outcome

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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