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Malek N, Stewart W, Greene J. The progressive myoclonic epilepsies. Pract Neurol. 2015;15(3):164-71doi: 10.1136/practneurol-2014-000994.
Malek, N., Stewart, W., & Greene, J. (2015). The progressive myoclonic epilepsies. Practical neurology, 15(3), 164-71. https://doi.org/10.1136/practneurol-2014-000994
Malek, Naveed, et al. "The progressive myoclonic epilepsies." Practical neurology vol. 15,3 (2015): 164-71. doi: https://doi.org/10.1136/practneurol-2014-000994
Malek N, Stewart W, Greene J. The progressive myoclonic epilepsies. Pract Neurol. 2015 Jun;15(3):164-71. doi: 10.1136/practneurol-2014-000994. Epub 2015 Feb 26. PMID: 25720773.
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Pract Neurol. 2015 Jun;15(3):164-71. doi: 10.1136/practneurol-2014-000994. Epub 2015 Feb 26.

The progressive myoclonic epilepsies.

Practical neurology

Naveed Malek, William Stewart, John Greene

Affiliations

  1. Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.
  2. Department of Neuropathology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.

PMID: 25720773 DOI: 10.1136/practneurol-2014-000994

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.

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Keywords: EPILEPSY; MYOCLONUS

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