In humans, multiple genes have been implicated in epileptic disorders; in addition, in some cases, a specific gene is implicated in multiple forms of the disease. This report is for epilepsy, progressive myoclonic (PME) which is characterized by the presence of both muscle contractions (myoclonus) and seizures (epilepsy). A list of PME subtypes, as defined by OMIM, can be found by following the links in the "OMIM phenotypic series" section, below. A subset of these can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated June 2016 by FlyBase; FBrf0222196]
Progressive myoclonic epilepsy refers to a clinically and genetically heterogeneous group of neurodegenerative disorders, usually with debilitating symptoms, although severity varies. [from OMIM:254800; 2016.06.13]
Progressive myoclonic epilepsy (PME) is characterized by the presence of both muscle contractions (myoclonus) and seizures (epilepsy). Myoclonus occurs separately from seizures; the two types of symptoms respond differently to the same drugs and may evolve differently during the course of the disease. Myoclonus is frequently a greater problem than seizures, because it less amenable to control by available drugs. [from NORD, Progressive Myoclonus Epilepsy; 2016.06.13]