부산대학교 도서관

Epilepsy is a common disease with a prevalence of approximately 0.7%. At the same time it can have a variety of causes or be associated with a large number of comorbidities. Many of these meet the definition of a rare disease. A rare disease is diagnosed when fewer than 1 in 2000 people suffer from this condition. This applies to many developmental and epileptic encephalopathies (DEEs). In these cases, the underlying etiology contributes to both the development of epilepsy as well as the developmental disorder. The prevalence of epilepsy among people with intellectual disabilities is high. Taking these statements into account, there is an intersection between epilepsy, rare diseases, DEEs and intellectual disability. In this overlapping area, different aspects emerge depending on the perspective. People with intellectual disabilities have special needs, DEEs require genetic diagnostics and may therefore be amenable to specific treatment, and the concept of rare diseases also has a relevant political dimension and implications in terms of research funding. A workshop at the Swiss Epilepsy Center (Lengg Clinic), Zurich, in the spring of 2023 was dedicated to these topics, i.e., rare diseases, DEEs and intellectual disability in the context of epilepsy. This overview reflects the content of the lectures given on this occasion.