Progressive myoclonus epilepsies: clinical and genetic aspects.

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

Epilepsia

journal_title

Epilepsia

authors

Berkovic SF,Cochius J,Andermann E,Andermann F

doi

10.1111/j.1528-1167.1993.tb06256.x

subject

Has Abstract

pub_date

1993-01-01 00:00:00

pages

S19-30

eissn

0013-9580

issn

1528-1167

journal_volume

34 Suppl 3

pub_type

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