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- W3207215536 abstract "Sialidosis type 1 is a rare autosomal recessive disease, considered among the progressive myoclonous epilepsies (PME) and characterized by cortical myoclonous, seizures, ataxia, macular cherry-red spot and visual defects1. Recent clinical studies show a significative effectiveness of Perampanel (PER) on myoclonous and seizures in some cases of PME2,3. We describe a comprehensive clinical, neuroradiological, electrophysiological and ophtalmological long-term follow-up of two unrelated patients affected by Sialidosis type 1. Furthermore, we assess the effectiveness on myoclonous and tolerability of PER in add-on." @default.
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- W3207215536 date "2021-10-01" @default.
- W3207215536 modified "2023-09-25" @default.
- W3207215536 title "Sialidosis type 1: Long-term care of two unrelated patients and effectiveness of low doses of Perampanel" @default.
- W3207215536 doi "https://doi.org/10.1016/j.jns.2021.117685" @default.
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