L'epilessia nella sindrome di Rett

The aim of this multicentric study was to define the clinical history of epilepsy and to clarify the efficacy of various antiepileptic drugs in patients with Rett Syndrome, using a questionnaire provived for each patient. In our sample of 89 patients, seizures at onset were partial or generalized in most cases. The most commonly used antiepileptic drugs were VPA, followed by CBZ and LTG. Drug resistance epilepsy occurred in 47% of cases. Some MECP2 mutations were most frequently associated with epilepsy than other ones. Nevertheless the prevalence of drug resistance epilepsy changed among different mutation type.