Abstract
Progressive myoclonic epilepsies (PMEs) are a heterogeneous group of diseases leading to increasingly severe and usually therapy-refractory myoclonic and other epileptic seizures in initially normally developed children and adolescents and, exceptionally, in adults. Additional as well progressive symptoms consist of ataxia and cognitive impairment up to dementia. The 12 forms that have been genetically differentiated to date are briefly reviewed, and disorders and genes that are further associated with PMEs are named. Therapeutic aspects are briefly mentioned.
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