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Progressive Myoclonus Epilepsies: Clinical and Genetic Aspects
Author(s) -
Berkovic Samuel F.,
Cochius Jeffrey,
Andermann Eva,
Andermann Frederick
Publication year - 1993
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.1993.tb06256.x
Subject(s) - progressive myoclonus epilepsy , lafora disease , myoclonus , neuronal ceroid lipofuscinosis , neuroscience , confusion , disease , medicine , epilepsy , batten disease , myoclonic epilepsy , psychology , pathology , biology , genetics , psychoanalysis , phosphorylation , phosphatase
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.