Last modified: 2014-04-03
Abstract
Epileptogenesis is barely studied in humans, as patients usually present AFTER the seizure onset. EPISTOP is the first prospective study of epileptogenesis in humans, beginning BEFORE seizures and continuing through age 2+ years, permitting detailed analysis of the onset, drug-resistance, and comorbidities of epilepsy in a homogenous group of patients with prenatal or early infantile diagnosis of Tuberous Sclerosis Complex (TSC). Project is funded by European Union within 7th Frame Programme.
AIM: The aim of EPISTOP is to examine the biomarkers of epilepsy and to identify possible new therapeutic targets to block or otherwise modify epileptogenesis in humans.
METHODS: Biomarker analysis will be performed by a multidisciplinary, comprehensive approach which consists of: 1/ prospective study of epilepsy development in infants with TSC, including analysis of clinical, neuroimaging, and molecular, blood-derived biomarkers at predefined time points; 2/ prospective study of blood-based biomarkers in infants with TSC treated with antiepileptic drugs prior to seizure onset in comparison to children treated only after clinical seizures appearance; 3/ analysis of biomarkers of epileptogenesis and drug-resistant epilepsy in brain specimens obtained from TSC patients who have had epilepsy surgery and TSC autopsy cases.
RESULTS: EPISTOP should permit to confirm or discover role of genes and proteins involved in the epileptogenesis. The mechanisms of drug-resistancy should be also elucidated.
CONCLUSION: EPISTOP is the first project aimed to assess the epileptogenesis in humans.