RARE AND COMPLEX EPILEPSIES
Rare and Complex Epilepsies are distinctive rare epilepsy syndromes / diseases for which the prognosis for the control of epileptic manifestations and the outcome of neurological development is extremely poor. Rare Epilepsies affect nearly 5 out of 10,000 people in the general population. Epilepsy is no longer seen as "a single disease". With careful observation and description of clinical manifestations combined with optimal use of diagnostic tools such as video electroencephalography, advanced neuro-diagnostics including high-resolution MRI, next-generation sequencing in genetics and advanced metabolic diagnostics, an increasing number of single diseases and syndromes emerged.
Epilepsy can occur at all ages, from newborn to elderly, and has different etiologies, symptoms and outcomes recognized in recent decades. We are now aware of over 130 diseases recognized by a clear clinical presentation with or without a clear etiology. Early screening and, when possible, early diagnosis and the choice of the most appropriate treatments (medical or surgical) are of the utmost importance.
Most of those affected are unable to take care of themselves completely independently.
Rare and complex epilepsies are numerous, diverse and have many different etiologies. The heterogeneous and sometimes subtle nature of their clinical presentation and the enormous variation in early symptoms often results in a delay in obtaining a timely diagnosis.
For many sufferers, there are few or no treatment options available.
While seizures are the common sign of all rare and complex epilepsies, each syndrome has co-morbidities that are often equally, or more, debilitating.
ERN EpiCARE
The European Reference Networks (ERNs) were launched in 2017 and the ERN's main mission is to help patients with rare or low prevalence diseases. ERN EpiCARE brings together highly functional health centers (28 full members and 15 affiliated partners) in 24 European countries with expertise in rare and larger epilepsies. The centers work closely with scientific societies ( ILAE, EAN, EPNS , Epilepsy Alliance Europe ) and a number of other epilepsy teams in the EU with experience in specific sectors.
The Rare Epilepsies Alliance was established "online" at the beginning of 2021 on the occasion of the meeting The Rare and Complex Epilepsies - Associations & Research in comparison
held on Friday 19 February 2021 - 15: 30-18: 30 on the zoom platform organized by Isabella Brambilla, President of Dravet Italia Onlus and coordinator of epag Epicare, and endorsed by ERN EpiCARE.
TARGETs of the Rare and Complex Epilepsies Alliance:
Enhance the accessibility of detailed diagnostics to people of all ages with rare epilepsies and across Europe, including clinical evaluation and investigation
Develop treatment protocols and monitor standardized outcomes of rare and major epilepsies.
Improve awareness and accessibility of protocols for physicians and people with rare epilepsies and across Europe for treatment.
Enhance educational activities and training opportunities across Europe through interchange through the network.
Enhance opportunities for registries and collaborative research for the benefit of people with rare and realized epilepsies across Europe.