PME. The progressive myoclonus epilepsies (PME) are an important and distinct subgroup of genetic epilepsies. In contrast to many genetic epilepsies with a neurodevelopmental trajectory, the PMEs often follow a neurodegenerative course, which is characterized by a worsening myoclonus over time and frequently associated with cognitive decline. In a recent publication, protein-truncating variants in the intronless gene IRF2BPL were identified in two individuals with PME. However, in contrast to the relatively distinct nature of most other PME, the clinical presentation in IRF2BPL-related disorders is part of a phenotypic spectrum and emerges as one of the most usual phenotypic discoveries in the genetic epilepsies to date.
