Changing the fate. Results coming from epileptogenesis in tuberous sclerosis
Tuberous sclerosis (TS) is a multisystem, genetic, neurocutaneous disorder associated with the development of benign tumours in several organs. Epilepsy affects 70–90% of patients. In the majority of patients epilepsy manifests in the first months of life and half of patients develop cognitive impairment, autism spectrum disorders or other neurodevelopmental disturbances. Our previous studies demonstrated that antiepileptic treatment before the onset of seizures but after electroencephalographic (EEG) deterioration results in significant decrease of clinical seizures, the risk of drug-resistant epilepsy, and relevant improvement in neurodevelopmental outcome. As recently shown the development of epilepsy is a long process called epileptogenesis. Seizures are usually preceded by changes in genes expression, neuronal death, activation of inflammation, finally by changes in the EEG recordings. Intervention at this „latent” stage of epileptogenesis may change the fate of the TS children. The EPISTOP project (Full title: Long-term, prospective study evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy – Tuberous sclerosis complex; www.Epistop.eu) is a multi-center prospective European study tracking epileptogenesis and epilepsy in infants with TS. These studies will allow for the further identification of clinical, molecular and genetic biomarkers that may be used to identify at-risk patients. In the presentation the concept of preventative intervention in epileptogenesis will be discussed. FINANCIAL SUPPORT: We are grateful to all the partners of the EPISTOP consortium who participate in this multi-center European project. Part of the research leading to these results was funded by the European Community’s Seventh Framework Programme (FP7/2007–2013) under grant agreement n°602391 – EPISTOP.