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Title: Progressive myoclonus epilepsies: clinical and genetic aspects.
Austin Authors: Berkovic, Samuel F ;Cochius, J;Andermann, Eva;Andermann, Frederick
Affiliation: Department of Neurology, Austin Hospital, Melbourne, Australia
Issue Date: 16-May-1993
Publication information: Epilepsia; 34 Suppl 3(): S19-30
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.
Gov't Doc #: 8500430
Journal: Epilepsia
Type: Journal Article
Subjects: Adolescent
Child, Preschool
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 21
Epilepsies, Myoclonic.diagnosis.genetics
Genetic Linkage
MERRF Syndrome.diagnosis.genetics
Neuronal Ceroid-Lipofuscinoses.diagnosis.genetics
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