Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects.
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.
de Siqueira
Luis Felipe Mendonça
LF
Federal University of Minas Gerais, Belo Horizonte, Brazil. luismensiq@hotmail.com
D004569:Electroencephalography / Q000379:methods; D006801:Humans; D018657:Muscle Fibers, Slow-Twitch / Q000473:pathology; D020191:Myoclonic Epilepsies, Progressive / Q000145:classification / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy*; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1 / Q000235:genetics*
D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1