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Case Reports
. 2017 May 26:8:44-46.
doi: 10.1016/j.ebcr.2017.05.004. eCollection 2017.

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

Hideaki Shiraishi  1 , Kiyoshi Egawa  1 , Tomoshiro Ito  1 , Osamu Kawano  1 , Naoko Asahina  1 , Shinobu Kohsaka  1
Affiliations
Case Reports

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

Hideaki Shiraishi et al. Epilepsy Behav Case Rep. .

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.

Keywords: Child; DRPLA; Dentatorubral-pallidoluysian atrophy; Perampanel; Progressive myoclonic epilepsy.

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Figures

Fig. 1
Fig. 1
EEG performed while awake at 11 years of age. The EEG showed bilateral diffuse spike-and-wave complexes and diffuse polyspike bursts followed by motion artifacts during a myoclonic seizure.
Fig. 2
Fig. 2
Clinical course of drugs, seizures and neurological findings in our patient from 7 to 14 years of age. CBZ, carbamazepine; VPA, valproate; LTG, lamotrigine; LEV, levetiracetam; PB, phenobarbital; CLB, clobazam; PER, perampanel; GTCs, generalized tonic–clonic seizures.
Fig. 3
Fig. 3
EEG performed while awake at 13 years of age. The EEG showed bilaterally independent occipital spikes.
See this image and copyright information in PMC

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