Epilepsy in Rett syndrome: Clinical and genetic features

Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli, Elena Parodi, Francesca Aiello, Maria Giuseppina Baglietto, Yussef Hayek, Sabrina Buoni, Alessandra Renieri, Silvia Russo, Francesca Cogliati, Lucio Giordano, MariaPaola Canevini, Edvige Veneselli

Research output: Contribution to journalArticlepeer-review


Epilepsy often occurs in Rett syndrome and is considered a major problem. The aim of this study was to define the clinical features of epilepsy and the correlation between seizures and both genotype and clinical phenotype in the Rett population. One hundred sixty-five patients with Rett syndrome referred to four Italian centers were recruited. All patients underwent video/EEG monitoring and molecular analysis of the MECP2 gene or, in negative cases, of the CDKL5 and FOXG1 genes. The frequency of epilepsy was 79%. Drug-resistant epilepsy occurred in 30% of all our patients with Rett syndrome and in 38% of those with epilepsy. Our findings demonstrate that epilepsy differs among the various phenotypes and genotypes with respect to age at onset, drug responsiveness, and seizure semiology. The Hanefeld and preserved speech variants represent the extremes of the range of severity of epilepsy: the preserved speech variant is characterized by the mildest epileptic phenotype as epilepsy is much less frequent, starts later, and is less drug resistant than what is observed in the other phenotypes. Another important finding is that seizure onset before 1. year of age and daily frequency are risk factors for drug resistance. Thus, this study should help clinicians provide better clinical counseling to the families of patients with Rett syndrome.

Original languageEnglish
Pages (from-to)296-300
Number of pages5
JournalEpilepsy and Behavior
Issue number3
Publication statusPublished - Nov 2010


  • Drug resistance
  • Epilepsy
  • Genotype-phenotype correlation
  • Rett syndrome
  • Risk factors
  • Seizure semiology

ASJC Scopus subject areas

  • Clinical Neurology
  • Behavioral Neuroscience
  • Neurology


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