Epilepsias mioclônicas progressivas: descrição clínica, eletroencefalográfica e da frequência da mutação A8344Gem pacientes do Ambulatório de Neurogenética do Hospital das Clínicas- UFMG

Abstract

The progressive myoclonic epilepsies (PME) are a rare group of epilepsies of debilitating evolution and bad prognosis. The challenge concerning PME consists of the difficulty in establishing the etiology and the absence of a specific treatment for each entity. Nevertheless,recent advances in molecular genetics have enabled better understanding of the pathogenesis and diagnosis of these diseases. The present work is a review of the PME features, with emphasis oncurrent molecular and clinical findings.