Developmental and epileptic encephalopathies (DEEs) are  characterized by the  co-occurrence of epilepsy and intellectual disability (ID) and impose a major medical  and socio-economic burden.  

In DEEs, both genetically induced developmental abnormalities and severe  epilepsy/EEG discharges contribute to the observed impairment, in a sort of ‘above and beyond’ phenomenon. 

In many DEEs, epilepsy and ID are associated with comorbidities, both neurological  and extra-neurological and, in some subsets (i.e. those related to mTOR pathway  dysregulation), with an increased risk for tumor occurrence.

Since DEEs are by definition severe conditions, the focus of medical attention and of clinical studies is on the primary disorder. As a consequence of this, distribution, clinical course, and the full range of comorbidities and their pathophysiological intersections in DEEs are still largely unknown. 

Within this project, we will boost knowledge on the phenotypic spectrum observed in patients with DEEs gathering and characterizing at clinical, neurophysiological, and  neuroanatomical level a large cohort of patients with DEEs seen in 3 Tuscany  reference pediatric hospitals located in Florence, Pisa and Siena. 

We will also establish the first Regional, and subsequently National, registry for  patients with DEEs, which will be instrumental to clarify prevalence, clinical  characteristics, comorbidities, and disease burden for different subsets of DEEs.

The registry will also permit epidemiological studies, long term follow-up, prospective assessment for cancer risk in patients who are at higher risk of developing such comorbidity, and disease cost analysis.