The progressive myoclonic epilepsies

Malek, N., Stewart, W. and Greene, J. (2015) The progressive myoclonic epilepsies. Practical Neurology, 15(3), pp. 164-171. (doi:10.1136/practneurol-2014-000994) (PMID:25720773)

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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.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Stewart, Dr William and Greene, Dr John
Authors: Malek, N., Stewart, W., and Greene, J.
College/School:College of Medical Veterinary and Life Sciences > Institute of Neuroscience and Psychology
College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Practical Neurology
Publisher:BMJ Publishing Group
ISSN:1474-7758
ISSN (Online):1474-7766
Published Online:26 February 2015

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