Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)

We administered perampanel (PER) to a bedridden 13-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA). The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the ATN1 gene. The patient experienced continuous myoclonic seizures and weekly generalized tonic...

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Detalles Bibliográficos
Autores principales: Shiraishi, Hideaki, Egawa, Kiyoshi, Ito, Tomoshiro, Kawano, Osamu, Asahina, Naoko, Kohsaka, Shinobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565628/
https://www.ncbi.nlm.nih.gov/pubmed/28856097
http://dx.doi.org/10.1016/j.ebcr.2017.05.004
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author Shiraishi, Hideaki
Egawa, Kiyoshi
Ito, Tomoshiro
Kawano, Osamu
Asahina, Naoko
Kohsaka, Shinobu
author_facet Shiraishi, Hideaki
Egawa, Kiyoshi
Ito, Tomoshiro
Kawano, Osamu
Asahina, Naoko
Kohsaka, Shinobu
author_sort Shiraishi, Hideaki
collection PubMed
description We administered perampanel (PER) to a bedridden 13-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA). The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the ATN1 gene. The patient experienced continuous myoclonic seizures and weekly generalized tonic–clonic seizures (GTCs). PER stopped the patient's myoclonic seizures and reduced the GTCs to fragmented clonic seizures. The patient recovered his intellectual abilities and began to walk again with assistance. We suggest that PER be considered as one of the key drugs used to treat patients with DRPLA.
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spelling pubmed-55656282017-08-30 Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA) Shiraishi, Hideaki Egawa, Kiyoshi Ito, Tomoshiro Kawano, Osamu Asahina, Naoko Kohsaka, Shinobu Epilepsy Behav Case Rep Case Report We administered perampanel (PER) to a bedridden 13-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA). The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the ATN1 gene. The patient experienced continuous myoclonic seizures and weekly generalized tonic–clonic seizures (GTCs). PER stopped the patient's myoclonic seizures and reduced the GTCs to fragmented clonic seizures. The patient recovered his intellectual abilities and began to walk again with assistance. We suggest that PER be considered as one of the key drugs used to treat patients with DRPLA. Elsevier 2017-05-26 /pmc/articles/PMC5565628/ /pubmed/28856097 http://dx.doi.org/10.1016/j.ebcr.2017.05.004 Text en © 2017 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Shiraishi, Hideaki
Egawa, Kiyoshi
Ito, Tomoshiro
Kawano, Osamu
Asahina, Naoko
Kohsaka, Shinobu
Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
title Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
title_full Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
title_fullStr Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
title_full_unstemmed Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
title_short Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
title_sort efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (drpla)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565628/
https://www.ncbi.nlm.nih.gov/pubmed/28856097
http://dx.doi.org/10.1016/j.ebcr.2017.05.004
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