The aim of EPISTOP is to better understand the pathophysiology of epilepsy and its consequences, to develop a preventative strategy for epilepsy, to identify new biomarkers of epilepsy, and to develop new therapeutic targets to block or otherwise modify epileptogenesis in humans.
To achieve this aim, the risk factors and biomarkers of epilepsy will be identified by a multidisciplinary, systematic approach in three settings:
- a prospective study of epilepsy development in infants with TSC, using a wide range of clinical, neuroimaging, and genetic analyses, including a diverse set of cutting edge analyses of blood samples, that will be obtained at study entry, at the onset of epileptiform discharges on EEG, at seizure onset and at the age of 24 months.
- prospective clinical study
- analysis of biomarkers of epileptogenesis and drug-resistant epilepsy in epileptogenic brain specimens obtained from patients with TSC who underwent epilepsy surgery and TSC autopsy cases collected in the past.