Application of new methods of diagnosis and treatment of epilepsy and neurodevelopmental disorders in children based on the clinical and cellular model of epilepsy depending on the mTOR pathway

Epilepsy affects 1% of the world's population and approximately 6 million people in Europe. With an estimated total cost of € 20 trillion in 2014, epilepsy is one of the most serious socio-economic burdens in Europe. Despite the progress in the treatment of epilepsy and the increasing number of antiepileptic drugs, still 30-40% of patients have epilepsy that does not respond to any treatment. Additionally, epilepsy in children is an important factor leading to complications such as mental and behavioral disorders, including developmental delay and autism spectrum disorders. Despite the research, no reliable markers of epilepsy development or biomarkers of epilepsy recurrence after treatment discontinuation have been identified. EPIMARKER is the first human project to prospectively study clinical, electroencephalographic and molecular biomarkers to develop an integrated practical tool for the diagnosis and treatment of epilepsy in children. The main goal will be to prevent drug-resistant epilepsy and its complications: mental retardation and autism. Molecular biomarkers will be identified by transcriptomic and proteomic studies and validated in cellular models. Several leading research centers in Poland participate in the study and the latest discoveries in biotechnology, engineering and information technology will be applied in it. Full consortium composition: Medical University of Warsaw - LEADER; Centra Genetyki Medycznej GENESIS Sp. z o.o., the International Institute of Molecular and Cell Biology (MIBMiK), Institute of Children's Health (IPCZD), M. Nencki Institute of Experimental Biology of the Polish Academy of Sciences (IBD), Institute of Biochemistry and Biophysics of the Polish Academy of Sciences (IBB), Transition Technologies S.A., ELMICO Aparatura Medyczna.