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Open Access Long-term, prospective study evaluating clinical and molecular biomarkers of EPIleptogenesis in a genetic model of epilepsy – Tuberous sclerosis complex

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The aim of EPISTOP is to examine the risk factors and biomarkers of epilepsy and to identify possible new therapeutic targets to block or otherwise modify epileptogenesis in humans. To achieve this aim, the biomarkers will be identified by a multidisciplinary, systematic approach in three settings:

- a prospective study of epilepsy development in infants with TSC, with a wide range of clinical, neuroimaging, genetic, and other molecular biomarkers analysed before the onset of seizures, after the onset of epileptiform discharges on EEG, at seizure onset and at the age of 24 months

- a prospective study of epileptogenesis biomarkers in TSC affected children treated with antiepileptic drugs before the onset of seizures in comparison to children treated only after appearance of clinical seizures

- 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.The aim of EPISTOP is to examine the risk factors and biomarkers of epilepsy and to identify possible new therapeutic targets to block or otherwise modify epileptogenesis in humans.

To achieve this aim, the biomarkers will be identified by a multidisciplinary, systematic approach in three settings:

- a prospective study of epilepsy development in infants with TSC, with a wide range of clinical, neuroimaging, genetic, and other molecular biomarkers analysed before the onset of seizures, after the onset of epileptiform discharges on EEG, at seizure onset and at the age of 24 months

- a prospective study of epileptogenesis biomarkers in TSC affected children treated with antiepileptic drugs before the onset of seizures in comparison to children treated only after appearance of clinical seizures

- 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.
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Keywords: BIOMARKERS; EEG; EPILEPSY; EPILEPTOGENESIS; NEUROPSYCHOLOGY; TUBEROUS SCLEROSIS COMPLEX

Document Type: Research Article

Publication date: February 1, 2017

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