EEC 2026 | Rare and ultra-rare epilepsies: managing complexities as a clinician

Rare and ultra-rare epilepsies are difficult to manage as far as we do have few patients. We may not know the proper prognosis, we may not know information about the natural history, so it’s a complex task. On one side, as I just mentioned, because the natural history of those patients is not properly known, they’re so rare. And in some occasions, we do have one or two or three of those patients, so it’s difficult to manage. And in some other situations, in rare and ultra-rare, we may not know, even if we do have an etiology, some kind of genetic etiology, we may not know what are the most important functions of the gene that is mutated. And if we don’t know the function, we cannot hypothesize the proper treatment for those patients. So there are so many challenges. And for the clinicians, of course, the best would be trying to have a common network, trying to build consultations with other physicians and putting together the cases. So that’s the only way when we treat rare and ultra-rare, just putting the clinical history on a common basis and discussing with other epileptologists about those patients and trying to understand if there are other patients around and trying to better understand the phenotype and trying to better understand what can be the best approach in terms of medications. Lastly, there are also other opportunities, and this is something that should be discussed also with the industries, and so between academia and the industries, trying to develop new treatments, trying to discuss if there are any chances to have experimental therapies, even for ultra-rare patients. Even if this is something that may be difficult, it may take time, but we need to start to do it as soon as we have the newly diagnosed ultra-rare patients.

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