Epilepsias Mioclônicas Progressivas
revisão de aspectos clínicos e moleculares
DOI:
https://doi.org/10.34024/rnc.2010.v18.8442Palavras-chave:
Epilepsia, Mioclonia, Doença de Lafora, Síndrome de Unverricht-Lundborg, Lipofuscinoses ceróides neuronais, Síndrome de MERRFResumo
As epilepsias mioclônicas progressivas (EMP) são um grupo raro de epilepsias de evolução debilitante e prognóstico ruim. Seu desafio reside na dificuldade do diagnóstico etiológico e na ausência de um tratamento específico para cada entidade. Apesar disso, avanços recentes na área de genética molecular vêm possibilitando melhor compreensão da etiopatogenia e diagnóstico dessas doenças. Neste trabalho, revisamos os conhecimentos atuais a respeito das EMP com ênfase nos aspectos clínicos e genéticos.
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Publicado: 2010-12-31
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