PROGRESSIVE MYOCLONIC EPILEPSIES - RECENT GENETIC ADVANCES

The progressive myoclonic epilepsies are a rare group of debilitating epileptic encephalopathies characterized by myoclonic seizures, progre ssive neurological dysfunction and dementia. in the past year advances in gene mapping have isolated gene loci for the majority of progressi ve myoclonic disorders, paving the way for specific diagnosis, more ac curate prognosis and risk calculation, as well as opening the potentia l for prenatal and pre-symptomatic diagnosis in at risk families.