title: The progressive myoclonic epilepsies.
abstract: Progressive myoclonic epilepsies are a group of disorders characterised by a relentlessly progressive disease course until death; treatment-resistant epilepsy is just a part of the phenotype. This umbrella term encompasses many diverse conditions, ranging from Lafora body disease to Gaucher's disease. These diseases as a group are important because of a generally poor response to antiepileptic medication, an overall poor prognosis and inheritance risks to siblings or offspring (where there is a proven genetic cause). A correct diagnosis also helps patients and their families to accept and understand the nature of their disease, even if incurable. Here, we discuss the phenotypes of these disorders and summarise the relevant specific investigations to identify the underlying cause.
authors.affiliation: Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.
authors.forename: Naveed
authors.initials: N
authors.lastname: Malek
authors.affiliation: Department of Neuropathology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.
authors.forename: William
authors.initials: W
authors.lastname: Stewart
authors.affiliation: Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.
authors.forename: John
authors.initials: J
authors.lastname: Greene
mesh_terms: D006801:Humans; D020191:Myoclonic Epilepsies, Progressive
keywords: EPILEPSY; MYOCLONUS