Irish Child Health Database - Peer Reviewed Papers
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Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects
Published in:
Lancet Neurol, Vol: 4, Page: 239-48
Publication Date:
April 2005
Aims & Objectives:
This article discusses progressive myoclonic epilepsies
Abstract:
The progressive myoclonic epilepsies (PMEs) are a group of symptomatic generalised epilepsies caused by rare disorders, most of which have a genetic component, a debilitating course, and a poor outcome. Challenges with PME arise from difficulty with diagnosis, especially in the early stages of the illness, and further problems of management and drug treatment. Recent advances in molecular genetics have helped achieve better understanding of the different disorders that cause PME. We review the PMEs with emphasis on updated genetics, diagnosis, and therapeutic options.
Authors:
Study Type:
Non Study Papers » Discussion paper, review, commentary, letter »
Keywords:
- Adolescent
- Adult
- Brain/pathology
- Child
- Humans
- Lafora Disease/complications/genetics/therapy
- MERRF Syndrome/complications/genetics/therapy
- Mucolipidoses/complications/genetics/therapy
- Muscle, Skeletal/pathology
- Myoclonic Epilepsies, Progressive/complications/ etiology/ genetics/ therapy
- Neuronal Ceroid-Lipofuscinoses/complications/genetics/therapy
- Unverricht-Lundborg Syndrome/complications/genetics/therapy
Geography:
Republic of Ireland (Republic of Ireland)

