AbstractDravet syndrome is not one of the most frequent severe epilepsies affecting infants during the first year of life. In the most recent epidemiological study, in Sweden, its estimated incidence was 1 in 33,000 live births. On December 31, 2011, its prevalence was 1 in 45,700 children aged less than 18 years. Nonetheless, it is now well known by many child neurologists for several reasons. First, its genetic aetiology was demonstrated almost 15 years ago, and an animal model was created shortly thereafter, allowing experimental work focused on the underlying mechanisms of the disease. Second, the clinical characteristics of the typical form of Dravet syndrome are well defined, enough to allow early diagnosis. Third, although the epileptic seizures are highly pharmacoresistant, we now have at our disposal a specific therapeutic strategy that allows one to avoid the most severe seizures in a number of patients due to the new drug stiripentol, used in different associations. Nevertheless, this therapeutic strategy should not be limited to seizure control and needs to take into account all other aspects of the disease. The aim of this symposium is to present a synthesis of the diagnosis and treatment of Dravet syndrome with a focus on family needs.
Epilepsy combined with Wolf-Hirschhorn syndrome: a literature review and description of clinical cases
