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The progressive myoclonic epilepsies
  1. Naveed Malek1,
  2. William Stewart2,
  3. John Greene1
  1. 1Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK
  2. 2Department of Neuropathology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK
  1. Correspondence to Dr N Malek, Department of Neurology, Southern General Hospital, Glasgow G51 4TF, UK; nmalek{at}


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.


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