Article
Perampanel as a novel treatment for subcortical myoclonus in myoclonus-dystonia syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2023
Belli Elisabetta, Del Prete Eleonora, Unti Elisa, Mazzucchi Sonia, Palermo Giovanni, Ceravolo Roberto
Abstract excerpt
BACKGROUND: Myoclonus-dystonia (MD) is a syndrome characterized by subcortical myoclonus and milder dystonia. The main causative gene is the epsilon sarcoglycan gene (SGCE), but other genes may be involved. Response to medications is variable, with poor tolerability limiting their use. CASE PRESENTATION: We present the case of a patient with severe myoclonic jerks and mild dystonia since childhood. At first...
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