Results of the scientific research on the mechanisms of epilepsy development published in the journal "Annals of Neurology"

The official journal of the American Academy of Neurology "Annals of Neurology" published the results of the EPISTOP study, in which 16 centers from Europe, the USA and Australia participated (10 clinical centers, 5 laboratories and one administrative center). The study was coordinated by Prof. Sergiusz Jóźwiak, Head of the Department of Child Neurology of the UCC MUW.

The EPISTOP was the world's first international scientific research program that studied the mechanisms of epilepsy development from the stage of the first changes in the brain, before seizures occur. The project was the largest medical research funded by the EU's 7th Framework Programme and coordinated by the Polish scientific centre (the Children's Memorial Health Institute-IPCZD). 
"It is now known that epileptic seizures are the end result of a long term process called epileptogenesis, which involves molecular and structural changes in the brain leading to epilepsy. According to the current epilepsy management standards, treatment begins when the seizures appear. Unfortunately, in small children, the longer the time between the first seizures and the initiation of the treatment, the greater the risk of drug-resistant epilepsy and child developmental disorders". - says Prof. Sergiusz Jóźwiak.
In 2006, Prof. S. Jóźwiak's group at the IPCZD started a pilot study in which a small group of patients with tuberous sclerosis were given antiepileptic treatment slightly earlier than before the onset of the seizures, but after they had been diagnosed with electrical discharges in the brain seen in the EEG.
 “The favourable results of this study, indicating the possibility of preventing severe epilepsy in children, were the basis for the EPISTOP project. The aim was not only to confirm these preliminary results, but also to investigate the pediatric epilepsy mechanisms". - explains Prof. Sergiusz Jóźwiak.
In the EPISTOP project participated infants up to 4 months of age with tuberous sclerosis, who had not yet experienced epileptic seizures. In total, 101 children were included in the project in all clinical centers in Europe and Australia. Each child was examined until the age of 2 years. Initially every 4 weeks and then every 6 weeks an EEG was performed on each participant to detect discharges before epileptic seizures.  
The results of the EPISTOP study shows that prophylactic antiepileptic treatment significantly reduces the risk of epilepsy, as well as its severity and the risk of drug-resistance. It also completely prevents the occurrence of the salaam spasms (West’s Syndrome). In the entire EPISTOP study no severe forms of developmental delay were observed in any child.
At the same time, during the EPISTOP project, the patients participating in the study published in 2011 reached school age.
"Their long-term observation showed that patients treated prophylactically were mostly free of seizures. Half of the children could stop the treatment, and the development of 80% of them was completely normal, they could go to school together with their healthy peers. This is a huge change compared to the post-seizure group, among which only 20% of children develop properly at school age, while most of them have developmental retardation and autistic features" - says Prof. Sergiusz Jóźwiak.
In addition to the clinical part, the EPISTOP project has, for the first time, undertaken a comprehensive study to detect the mechanisms of epilepsy formation and its adverse effects on the development of children. The EPISTOP uses a wide range of tests, from the most basic clinical assessments, through the analysis of electrical signals from the brain (EEG), magnetic resonance imaging, to advanced molecular methods of gene, RNA and protein research. It is also important that some of the mechanisms of epilepsy development observed in tuberous sclerosis may explain the development of seizures not only in this disease, but in many other types of epilepsy. Although the EPISTOP project was formally completed in 2019, work on this part of the project is still ongoing.

Photograph: Photo-medical Department

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