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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...

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Autores principales: Obara, Koji, Imota, Tsuyoshi, Mamiya, Shigeo, Toyoshima, Itaru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
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.
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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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