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Type: Artigo de periódico
Title: Progressive Myoclonic Epilepsies: Clinical And Genetic Aspects [epilepsias Mioclônicas Progressivas: Aspectos Clínicos E Genéticos]
Author: Morais M.I.C.R.
Cendes F.
Guerreiro M.M.
Queiroz L.D.S.
Cintra M.L.
Lopes-Cendes I.
Abstract: Progressive myoclonic epilepsies (PMEs) are rare, familial neurodegenerative disorders with a worldwide distribution. This group of disorders are characterized clinically by myoclonus, generalized tonic-clonic seizures and progressive neurologic abnormalities, including dementia and ataxia. The most frequent causes are: Unverricht-Lundborg disease, Lafora disease, neuronal ceroid lipofuscinosis, mitochondrial encephalomyopathies and sialidoses. This review paper aims to discuss the clinical and recent molecular genetic aspects of this group of disorders. In addition, practical issues related to diagnosis and treatment will be addressed as well.
Rights: aberto
Identifier DOI: 
Date Issue: 2003
Appears in Collections:Unicamp - Artigos e Outros Documentos

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