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The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21
Epileptic seizures are common in the elderly Down syndrome population. We encountered a patient with Down syndrome in whom karyotyping showed the rare isodicentric chromosome 21 and who suffered from myoclonic seizures. A 52-year-old woman with Down syndrome experienced sudden onset of drowsiness an...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548920/ https://www.ncbi.nlm.nih.gov/pubmed/33082764 http://dx.doi.org/10.1159/000508357 |
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author | Obara, Koji Imota, Tsuyoshi Mamiya, Shigeo Toyoshima, Itaru |
author_facet | Obara, Koji Imota, Tsuyoshi Mamiya, Shigeo Toyoshima, Itaru |
author_sort | Obara, Koji |
collection | PubMed |
description | Epileptic seizures are common in the elderly Down syndrome population. We encountered a patient with Down syndrome in whom karyotyping showed the rare isodicentric chromosome 21 and who suffered from myoclonic seizures. A 52-year-old woman with Down syndrome experienced sudden onset of drowsiness and frequent myoclonic jerks in the upper body. Video-EEG recordings demonstrated generalized polyspike-wave discharges consistent with myoclonic jerks, which were exacerbated by photo-stimulation. Her myoclonus completely resolved with perampanel administration. Perampanel was effective for myoclonic seizures in our patient. We suggest that perampanel is an option as first-line therapy for epilepsy and myoclonus in elderly Down syndrome patients. |
format | Online Article Text |
id | pubmed-7548920 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-75489202020-10-19 The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21 Obara, Koji Imota, Tsuyoshi Mamiya, Shigeo Toyoshima, Itaru Case Rep Neurol Single Case − General Neurology Epileptic seizures are common in the elderly Down syndrome population. We encountered a patient with Down syndrome in whom karyotyping showed the rare isodicentric chromosome 21 and who suffered from myoclonic seizures. A 52-year-old woman with Down syndrome experienced sudden onset of drowsiness and frequent myoclonic jerks in the upper body. Video-EEG recordings demonstrated generalized polyspike-wave discharges consistent with myoclonic jerks, which were exacerbated by photo-stimulation. Her myoclonus completely resolved with perampanel administration. Perampanel was effective for myoclonic seizures in our patient. We suggest that perampanel is an option as first-line therapy for epilepsy and myoclonus in elderly Down syndrome patients. S. Karger AG 2020-09-10 /pmc/articles/PMC7548920/ /pubmed/33082764 http://dx.doi.org/10.1159/000508357 Text en Copyright © 2020 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Single Case − General Neurology Obara, Koji Imota, Tsuyoshi Mamiya, Shigeo Toyoshima, Itaru The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21 |
title | The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21 |
title_full | The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21 |
title_fullStr | The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21 |
title_full_unstemmed | The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21 |
title_short | The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21 |
title_sort | effectiveness of perampanel for myoclonic seizures in down syndrome with isodicentric chromosome 21 |
topic | Single Case − General Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548920/ https://www.ncbi.nlm.nih.gov/pubmed/33082764 http://dx.doi.org/10.1159/000508357 |
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