Is adjunctive perampanel beneficial for lafora disease?
Backgrund/Aim. Lafora disease (LD) is progressive myoclonus epilepsy, characterized by intractable myoclonus and seizures, inevitable neurological deterioration, brutal cognitive decline and poor prognosis. The treatment still remains purely symptomatic. Recently, two single-case studies and one cas...
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Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade
2020-01-01
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| Series: | Vojnosanitetski Pregled |
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| Online Access: | http://www.doiserbia.nb.rs/img/doi/0042-8450/2020/0042-84502000013S.pdf |
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| author | Stevanović Galina Jović Nebojša Kecmanović Miljana |
| author_facet | Stevanović Galina Jović Nebojša Kecmanović Miljana |
| author_sort | Stevanović Galina |
| collection | DOAJ |
| description | Backgrund/Aim. Lafora disease (LD) is progressive myoclonus epilepsy, characterized by intractable myoclonus and seizures, inevitable neurological deterioration, brutal cognitive decline and poor prognosis. The treatment still remains purely symptomatic. Recently, two single-case studies and one case series study reported the favourable effects of perampanel in LD. Our study aimed to test the benefits reported in three separate case studies. Methods. We performed an open label, prospective study of 4 patients aged between 22 and 34 years with mutation in NHLRC1 (EPM2B) gene, treated with perampanel (6–8 mg/day) as add-on therapy. Follow-up period comprised 14–26 months. Seizure frequency, myoclonus, functional disability and cognitive performance were analysed. Results. In 3 patients, both, seizures and myoclonus, showed remarkable improvement after the drug introduction (> 50% reduction). No significant effect was seen in one case. The functional and cognitive impairment maintained at the same level, though all patients were at the later stage of the disease. Psychiatric side effects were dose related. Conclusion. Our study supports the rare, previously reported observations that perampanel is beneficial in treating LD patients. |
| format | Article |
| id | doaj-art-c93251f7efa14d0abc70b3aa5fd6793a |
| institution | OA Journals |
| issn | 0042-8450 2406-0720 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj-art-c93251f7efa14d0abc70b3aa5fd6793a2025-08-20T02:19:34ZengMinistry of Defence of the Republic of Serbia, University of Defence, BelgradeVojnosanitetski Pregled0042-84502406-07202020-01-0177553954410.2298/VSP170416013S0042-84502000013SIs adjunctive perampanel beneficial for lafora disease?Stevanović Galina0Jović Nebojša1Kecmanović Miljana2Clinic for Neurology and Psychiatry for Children and Youth, Belgrade, SerbiaClinic for Neurology and Psychiatry for Children and Youth, Belgrade, SerbiaUniversity of Belgrade, Faculty of Biology, Center for Human Molecular Genetics, Belgrade, SerbiaBackgrund/Aim. Lafora disease (LD) is progressive myoclonus epilepsy, characterized by intractable myoclonus and seizures, inevitable neurological deterioration, brutal cognitive decline and poor prognosis. The treatment still remains purely symptomatic. Recently, two single-case studies and one case series study reported the favourable effects of perampanel in LD. Our study aimed to test the benefits reported in three separate case studies. Methods. We performed an open label, prospective study of 4 patients aged between 22 and 34 years with mutation in NHLRC1 (EPM2B) gene, treated with perampanel (6–8 mg/day) as add-on therapy. Follow-up period comprised 14–26 months. Seizure frequency, myoclonus, functional disability and cognitive performance were analysed. Results. In 3 patients, both, seizures and myoclonus, showed remarkable improvement after the drug introduction (> 50% reduction). No significant effect was seen in one case. The functional and cognitive impairment maintained at the same level, though all patients were at the later stage of the disease. Psychiatric side effects were dose related. Conclusion. Our study supports the rare, previously reported observations that perampanel is beneficial in treating LD patients.http://www.doiserbia.nb.rs/img/doi/0042-8450/2020/0042-84502000013S.pdflafora diseasediagnosisanticolvusantsperampaneltreatment outcome |
| spellingShingle | Stevanović Galina Jović Nebojša Kecmanović Miljana Is adjunctive perampanel beneficial for lafora disease? Vojnosanitetski Pregled lafora disease diagnosis anticolvusants perampanel treatment outcome |
| title | Is adjunctive perampanel beneficial for lafora disease? |
| title_full | Is adjunctive perampanel beneficial for lafora disease? |
| title_fullStr | Is adjunctive perampanel beneficial for lafora disease? |
| title_full_unstemmed | Is adjunctive perampanel beneficial for lafora disease? |
| title_short | Is adjunctive perampanel beneficial for lafora disease? |
| title_sort | is adjunctive perampanel beneficial for lafora disease |
| topic | lafora disease diagnosis anticolvusants perampanel treatment outcome |
| url | http://www.doiserbia.nb.rs/img/doi/0042-8450/2020/0042-84502000013S.pdf |
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