Long-term prospective study evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy – Tuberous Sclerosis Complex (TSC).
Long-term prospective study evaluating clinical and molecular biomarkers of onset of epilepsy in newborns with tuberous sclerosis.
Human R&D, Innovation
FP7-HEALTH-2013-INNOVATION – Grant Agreement ID 602391
1 November 2013 to 31 October 2018
Epilepsy affects 1% of the world’s population. Despite great progress in the management of epilepsy and increasing numbers of antiepileptic drugs, 30-40% of epilepsy patients are refractory to all available medications, and many suffer from epilepsy-related comorbidities. The EPISTOP project had two major objectives: a clinical trial objective, focused on epilepsy prevention study in infants with Tuberous Sclerosis Complex (TSC); and a laboratory objective, the identification of biomarkers of epilepsy development and its neurodevelopmental comorbidities. EPISTOP was carried out by a multidisciplinary consortium of 10 clinical sites and 5 laboratories. It was the first prospective study of epileptogenesis in humans and included a unique clinical trial comparing epilepsy and neurodevelopmental outcome in patients receiving either standard or preventive antiepileptic treatment. Within the consortium, GenomeScan sequenced genomes, RNA and miRNA of the young patients, which paved the way for discovery of molecular biomarkers of the disease.
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. Mills JD, et al. Scientific reports. 2017 Aug 14;7(1):1-6. doi: 10.1038/s41598-017-06145-8
This project has received funding from the European Union’s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 602391.