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

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Title: Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
Authors: Shiraishi, Hideaki Browse this author →KAKEN DB
Egawa, Kiyoshi Browse this author
Ito, Tomoshiro Browse this author
Kawano, Osamu Browse this author
Asahina, Naoko Browse this author
Kohsaka, Shinobu Browse this author
Keywords: Perampanel
Dentatombral-pallidoluysian atrophy
DRPLA
Progressive myoclonic epilepsy
Child
Issue Date: 2017
Publisher: Elsevier
Journal Title: Epilepsy & Behavior Case Reports
Volume: 8
Start Page: 44
End Page: 46
Publisher DOI: 10.1016/j.ebcr.2017.05.004
Abstract: 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.
Rights: http://creativecommons.org/licenses/by-nc-nd/4.0/
Type: article
URI: http://hdl.handle.net/2115/68215
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 白石 秀明

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