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systematic_review·neurology, pediatrics, biomedical research, systematic review·PMC10888128

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

Genes · 2 authors, 1 centre

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TL;DR

This is a scoping review of literature from 2013 to 2023 on progressive myoclonus epilepsies (PMEs). It summarizes advances in diagnosing, understanding the symptoms, and treating these heterogeneous genetic disorders.

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This scoping review synthesized 116 English-language articles from PubMed published between 2013 and 2023 to overview diagnostic, phenotypic, and therapeutic advances in progressive myoclonus epilepsies (PMEs). The review concludes that lessons from specific PMEs may translate to improved diagnostics, phenotyping, and therapies for rarer forms, indicating a brighter future for this field.

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systematic_review

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neurology

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ORIGINAL PAPER

PMC10888128

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

Genes

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ABSTRACT

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. Keywords: progressive myoclonic epilepsy, Unverricht-Lundborg disease, Lafora disease, acid ceramidase deficiency, myoclonic epilepsy with ragged red fibers, neuronal ceroid lipofuscinoses, North Sea PME, therapy

CITATION EXPORT

Vincent Zimmern, Berge Minassian. Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances. Genes. (2024). https://doi.org/10.3390/genes15020171

AUTHORS

2 · 1 CENTRES

Vincent Zimmern, Berge Minassian

1Division of Child Neurology, University of Texas Southwestern, Dallas, TX 75390, USA; [email protected]