Observational and Experimental Studies on the Diagnosis and Outcome of Epilepsy and Epileptogenic Conditions: Investigating the static and dynamic phenotype of epilepsy

Different studies spanning the diagnosis, the outcome and the treatment of the disease have been performed to investigate the spectrum of epilepsy. The topics were: 1. The differential diagnosis between epilepsy and another common clinical condition (PNES); 2. The verification if epilepsy could be a marker of genetic diseases characterized by intellectual disability and behavioural abnormalities (idic(15) syndrome); 3.The assessment of the long-term outcome of the disease to identify different prognostic patterns; 4.The investigation of the frequency and clinical features of drug-resistant epilepsy (DRE) with reference to the number of antiepileptic drugs (AEDs). In 1/3 of cases a confident diagnosis of PNES/ES can be established by epileptologists on video data only. Compared to epileptologists, psychiatrists demonstrated to be less accurate in diagnosing PNES but more attuned to capture the subtleties of human behaviour. Investigating the patients and their witnesses using ad-hoc structured questionnaires, some variables were highly predictive of PNES diagnosis. These instruments may be useful clinical tools in settings not offering the facilities for a correct diagnosis and in cases where video-EEG monitoring has failed. In the study on the characterisation of idic(15) syndrome, epilepsy was used as disease tracer. It was found to be one of the few symptoms with satisfactory agreement but not a marker of this genetic syndrome. To verify if the epilepsy course and treatment response is static or dynamic, a population based-study in a well-defined area of Italy was performed. DRE patients (1/6 patients with active epilepsy in the general population) can reach 2-year remission (24.9 %) at 20 years and also early terminal remission (1.3%). AEDs given at diagnosis are retained in the majority of cases and the withdrawal can be predicted by age at diagnosis, sex, disease characteristics and varies among drugs.