Teaching conference and workshop
The genetic epileptic encephalopathies
Florence, Grand Hotel Baglioni
8-10 September 2016
In cooperation with
|Azienda Ospedaliera Universitaria Meyer, Firenze
|Università degli Studi di Firenze|
Next generation genetic studies are generating an enormous amount of new information that is remarkably improving our understanding on the causes and pathophysiology of severe childhood epilepsies, especially the epileptic encephalopathies. However, the large set of data that, almost on a daily basis, is made available to specialists is also generating uncertainty about how to interpret new information for clinical purposes and counselling.
Many different forms are defined as epileptic encephalopathies assuming that seizure activity plays a major role in causing neurological and cognitive deterioration. However, there is increasing evidence that causative mechanisms, in addition to precipitate epileptogenesis, also exert a damaging effect on fundamental processes such as neural connectivity, synaptic function, exocytosis, intracellular trafficking and membrane excitability, profoundly influencing brain development and neural function. It is therefore important to provide clinicians and researchers with a comprehensive perspective that may favour a rationale use of the new laboratory technology, an insightful interpretation of recently generated research data into the clinical dimension, a wider and more rapid generation of proof of concept experimental findings and an improved capability of adopting personalised therapeutic strategies and objectives for specific phenotypes.