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. 2013 Aug 16:1:118-21.
doi: 10.1016/j.ebcr.2013.07.003. eCollection 2013.

Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease)

Kathrin Schorlemmer  1 , Sebastian Bauer  1 , Marcus Belke  1 , Anke Hermsen  1 , Karl Martin Klein  1 , Philipp S Reif  1 , Wolfgang H Oertel  1 , Wolfram S Kunz  2 , Susanne Knake  1 , Felix Rosenow  1 , Adam Strzelczyk  1
Affiliations

Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease)

Kathrin Schorlemmer et al. Epilepsy Behav Case Rep. .

Abstract

Aim: The aim of this report is to provide initial evidence that add-on treatment with perampanel might be highly effective in progressive myoclonic epilepsy such as Lafora disease.

Case report: We report on a 21-year-old woman suffering from persistent myoclonus and generalized tonic-clonic seizures for more than seven years. Additionally, ataxia, a disturbance in speech and gait, as well as a cognitive decline were rapidly progressing. Subsequently, the diagnosis of Lafora disease was confirmed by the identification of a novel homozygous missense mutation in exon 3 of the EPM2A gene (c.538C>G; p.L180V). Adjunctive therapy with perampanel was started in this patient with advanced Lafora disease and was titrated up to 8 mg/day. A sustained and reproducible remission of myoclonus and GTCS could be achieved for a follow-up of three months. After dosage reduction to 6 mg/day, seizures recurred; however, on increasing the daily dose to 10 mg, seizures stopped for another three months. The patient also regained her ability to walk with help and the aid of a walker.

Conclusions: Perampanel is a selective, noncompetitive antagonist of AMPA-type glutamate receptors and recently licensed as adjunctive therapy for the treatment of refractory focal onset seizures. There is evidence for its effectiveness in generalized epilepsies, and phase III studies for this indication are on the way. Our case illustrates the possibility that perampanel might be a valuable option for treatment in PME. Considering its impressive efficacy in this case, we suggest a prospective, multicenter study evaluating perampanel in PME.

Keywords: EPM2A; Epilepsy; Lafora; Myoclonus; Perampanel; Progressive myoclonic epilepsy.

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Figures

Fig. 1
Fig. 1
T1, T2, and FLAIR MRI with mild generalized atrophy (A, B) as well as bilateral hippocampal atrophy (C, D).
Fig. 2
Fig. 2
EEG with generalized epileptiform discharges and associated myoclonus before initiation of perampanel.
Fig. 3
Fig. 3
EEG with bifrontal polyspikes and generalized slowing on follow-up.
See this image and copyright information in PMC

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