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Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

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Abstract

The progressive myoclonic epilepsies (PME) are a rare group of inherited neurodegenerative diseases with debilitating evolution, resistance to treatment and poor prognosis. However, advances in molecular genetics have enabled better understanding of the pathogenesis of these diseases, bringing hope for improved treatment options in the future. This manuscript is an overview of the clinical and molecular findings in patients with PME. Furthermore, it describes therapeutic approaches that are currently recommended in the literature.

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Authors and Affiliations

  1. Neuropediatrician, Federal University of Minas Gerais, Belo Horizonte, Brazil

    Luis Felipe Mendonça de Siqueira

  2. Serviço de Neuropediatria do Hospital das Clínicas - UFMG, Departamento de Pediatria, Faculdade de Medicina da UFMG, Federal University of Minas Gerais Medical School, Av. Alfredo Balena, 190. Bairro: Santa Efigênia, Belo Horizonte, MG, 30130-100, Brazil

    Luis Felipe Mendonça de Siqueira

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Correspondence to Luis Felipe Mendonça de Siqueira.

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de Siqueira, L.F.M. Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects. J Neurol 257, 1612–1619 (2010). https://doi.org/10.1007/s00415-010-5641-1

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