Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
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 myoclonu...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-01-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/15/2/171 |
| _version_ | 1797298167833690112 |
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| author | Vincent Zimmern Berge Minassian |
| author_facet | Vincent Zimmern Berge Minassian |
| author_sort | Vincent Zimmern |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T22:32:00Z |
| format | Article |
| id | doaj.art-c2b3faffa97642f1a97832b8f690a6c1 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-07T22:32:00Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-c2b3faffa97642f1a97832b8f690a6c12024-02-23T15:17:43ZengMDPI AGGenes2073-44252024-01-0115217110.3390/genes15020171Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic AdvancesVincent Zimmern0Berge Minassian1Division of Child Neurology, University of Texas Southwestern, Dallas, TX 75390, USADivision of Child Neurology, University of Texas Southwestern, Dallas, TX 75390, USAThe 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.https://www.mdpi.com/2073-4425/15/2/171progressive myoclonic epilepsyUnverricht-Lundborg diseaseLafora diseaseacid ceramidase deficiencymyoclonic epilepsy with ragged red fibersneuronal ceroid lipofuscinoses |
| spellingShingle | Vincent Zimmern Berge Minassian Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances Genes progressive myoclonic epilepsy Unverricht-Lundborg disease Lafora disease acid ceramidase deficiency myoclonic epilepsy with ragged red fibers neuronal ceroid lipofuscinoses |
| title | Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances |
| title_full | Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances |
| title_fullStr | Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances |
| title_full_unstemmed | Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances |
| title_short | Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances |
| title_sort | progressive myoclonus epilepsy a scoping review of diagnostic phenotypic and therapeutic advances |
| topic | progressive myoclonic epilepsy Unverricht-Lundborg disease Lafora disease acid ceramidase deficiency myoclonic epilepsy with ragged red fibers neuronal ceroid lipofuscinoses |
| url | https://www.mdpi.com/2073-4425/15/2/171 |
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