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

Hideaki Shiraishi; Kiyoshi Egawa; Tomoshiro Ito; Osamu Kawano; Naoko Asahina; Shinobu Kohsaka

doi:10.1016/j.ebcr.2017.05.004

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

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

Authors

Hideaki Shiraishi¹, Kiyoshi Egawa¹, Tomoshiro Ito¹, Osamu Kawano¹, Naoko Asahina¹, Shinobu Kohsaka¹

Affiliation

¹ Department of Pediatrics, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

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.

Publication types

Case Reports