Abstract
The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature both myoclonus and seizures that worsen gradually over a variable timeframe. While each of the disorders is individually rare, they collectively make up a non-trivial portion of the complex epilepsy and myoclonus cases that are seen in tertiary care centers. The last decade has seen substantial progress in our understanding of the pathophysiology, diagnosis, prognosis, and, in select disorders, therapies of these diseases. In this scoping review, we examine English language publications from the past decade that address diagnostic, phenotypic, and therapeutic advances in all PMEs. We then highlight the major lessons that have been learned and point out avenues for future investigation that seem promising.
Original language | English (US) |
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Journal | Genes |
Volume | 15 |
Issue number | 2 |
DOIs | |
State | Published - Jan 27 2024 |
Keywords
- acid ceramidase deficiency
- Lafora disease
- myoclonic epilepsy with ragged red fibers
- neuronal ceroid lipofuscinoses
- North Sea PME
- progressive myoclonic epilepsy
- therapy
- Unverricht-Lundborg disease
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)