Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/13393
Title: Progressive myoclonus epilepsies: clinical and genetic aspects.
Authors: Berkovic, Samuel F;Cochius, J;Andermann, Eva;Andermann, Frederick
Affiliation: Department of Neurology, Austin Hospital, Melbourne, Australia.
Issue Date: 16-May-1993
Citation: 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.
Internal ID Number: 8500430
URI: http://ahro.austin.org.au/austinjspui/handle/1/13393
URL: http://www.ncbi.nlm.nih.gov/pubmed/8500430
Type: Journal Article
Subjects: Adolescent
Adult
Child
Child, Preschool
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 21
Electroencephalography
Epilepsies, Myoclonic.diagnosis.genetics
Female
Genetic Linkage
Humans
MERRF Syndrome.diagnosis.genetics
Male
Mutation
Neuronal Ceroid-Lipofuscinoses.diagnosis.genetics
Appears in Collections:Journal articles

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