Abstract:
:The progressive myoclonus epilepsies (PMEs) are a group of rare genetic disorders previously shrouded in nosological confusion. Recent advances have clarified the features of these disorders and provided a rational approach to diagnosis. The major causes of PME are now known to be Unverricht-Lundborg disease, myoclonus epilepsy ragged-red fiber (MERRF) syndrome, Lafora disease, neuronal ceroid lipofuscinoses, and sialidoses. Over the past 3 years, a series of molecular genetic findings have further refined the understanding of the PMEs. The specific mutation responsible for many cases of MERRF has been identified, and the genes for Unverricht-Lundborg disease and for juvenile neuronal ceroid lipofuscinosis have been linked to chromosomes 21 and 16, respectively. Although the PMEs are among the rarest of the inherited epilepsies, because of molecular genetic discoveries they may soon be the best understood at the neurobiologic level.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Berkovic SF,Cochius J,Andermann E,Andermann Fdoi
10.1111/j.1528-1167.1993.tb06256.xsubject
Has Abstractpub_date
1993-01-01 00:00:00pages
S19-30eissn
0013-9580issn
1528-1167journal_volume
34 Suppl 3pub_type
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