Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug

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dc.contributor.authorLing, Janet
dc.contributor.authorYeung, Wai Lan
dc.contributor.authorHon, Kam Lun
dc.contributor.authorLo, Ivan F. M.
dc.contributor.authorLuk, Ho-Ming
dc.contributor.authorFung, Cheuk Wing
dc.contributor.authorLeung, Alexander K. C.
dc.date.accessioned2022-05-29T08:00:25Z
dc.date.available2022-05-29T08:00:25Z
dc.date.issued2022-05-26
dc.date.updated2022-05-29T08:00:24Z
dc.description.abstractWe report a girl with drug-resistant seizures, progressive behavioral changes, and cognitive decline. Investigations showed abnormal EEG with frequent high-voltage bifrontotemporal sharp and slow waves, especially during sleep. Seizures were difficult to control, despite the usage of various antiepileptic drugs. Perampanel as an add-on antiepileptic drug appeared efficacious. Due to the recognizable pattern of seizures and EEG findings, a karyotype study was performed which revealed 46 chromosomes with a ring 20 chromosome mosaicism. Ring 20 chromosome is associated with drug-resistant refractory seizures, cognitive decline, and behavioral problems. This case highlights the difficulty and challenge faced in managing drug-resistant refractory seizures associated with ring 20 chromosome. While ring 20 chromosome is often underdiagnosed, one should have a high index of awareness and suspicion of such rare epilepsy syndrome, so that an early diagnosis can be made.
dc.description.versionPeer Reviewed
dc.identifier.citationJanet Ling, Wai Lan Yeung, Kam Lun Hon, et al., “Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug,” Case Reports in Pediatrics, vol. 2022, Article ID 7414628, 6 pages, 2022. doi:10.1155/2022/7414628
dc.identifier.urihttp://dx.doi.org/10.1155/2022/7414628
dc.identifier.urihttp://hdl.handle.net/1880/114699
dc.identifier.urihttps://dx.doi.org/10.11575/PRISM/39802
dc.language.rfc3066en
dc.rights.holderCopyright © 2022 Janet Ling et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
dc.titleSuccessful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug
dc.typeJournal Article
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