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

Schorlemmer K, Bauer S, Belke M, Hermsen A, Klein KM, Reif PS, Oertel WH, Kunz WS, Knake S, Rosenow F, Strzelczyk A - Epilepsy Behav Case Rep (2013)

Bottom Line: After dosage reduction to 6 mg/day, seizures recurred; however, on increasing the daily dose to 10 mg, seizures stopped for another three months.There is evidence for its effectiveness in generalized epilepsies, and phase III studies for this indication are on the way.Considering its impressive efficacy in this case, we suggest a prospective, multicenter study evaluating perampanel in PME.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.

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.

No MeSH data available.


Related in: MedlinePlus

T1, T2, and FLAIR MRI with mild generalized atrophy (A, B) as well as bilateral hippocampal atrophy (C, D).
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f0005: T1, T2, and FLAIR MRI with mild generalized atrophy (A, B) as well as bilateral hippocampal atrophy (C, D).

Mentions: A 14-year-old, normally developed girl of Turkish descent initially presented to our clinic with myoclonus and GTCS. During video-EEG monitoring, interictal generalized spikes and polyspikes as well as three seizures with generalized onset were recorded. There was no evidence of focal EEG seizure onset. Over the next 7 years, no seizure remission had been achieved on various combinations of antiepileptic drugs or treatment with vagus nerve stimulation. Follow-up at the age of 18 years showed mild generalized and hippocampal atrophy on MRI (Fig. 1A–D). Neuropsychological evaluation showed a decline in language skills, especially in German, her second language. The patient spoke slowly and only few words with perseverations. Her attendance at a special school had decreased because of the seizures. No standardized neuropsychological testing was possible. The patient could name colors correctly and was interested in details of shown pictures. We observed a decline in language skills and attention, but motivational skills remained as a cognitive resource. Since then, disturbance in gait (ataxia) and cognitive decline were rapidly progressing, and eventually, the patient lost her ability to speak.


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

Schorlemmer K, Bauer S, Belke M, Hermsen A, Klein KM, Reif PS, Oertel WH, Kunz WS, Knake S, Rosenow F, Strzelczyk A - Epilepsy Behav Case Rep (2013)

T1, T2, and FLAIR MRI with mild generalized atrophy (A, B) as well as bilateral hippocampal atrophy (C, D).
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4150630&req=5

f0005: T1, T2, and FLAIR MRI with mild generalized atrophy (A, B) as well as bilateral hippocampal atrophy (C, D).
Mentions: A 14-year-old, normally developed girl of Turkish descent initially presented to our clinic with myoclonus and GTCS. During video-EEG monitoring, interictal generalized spikes and polyspikes as well as three seizures with generalized onset were recorded. There was no evidence of focal EEG seizure onset. Over the next 7 years, no seizure remission had been achieved on various combinations of antiepileptic drugs or treatment with vagus nerve stimulation. Follow-up at the age of 18 years showed mild generalized and hippocampal atrophy on MRI (Fig. 1A–D). Neuropsychological evaluation showed a decline in language skills, especially in German, her second language. The patient spoke slowly and only few words with perseverations. Her attendance at a special school had decreased because of the seizures. No standardized neuropsychological testing was possible. The patient could name colors correctly and was interested in details of shown pictures. We observed a decline in language skills and attention, but motivational skills remained as a cognitive resource. Since then, disturbance in gait (ataxia) and cognitive decline were rapidly progressing, and eventually, the patient lost her ability to speak.

Bottom Line: After dosage reduction to 6 mg/day, seizures recurred; however, on increasing the daily dose to 10 mg, seizures stopped for another three months.There is evidence for its effectiveness in generalized epilepsies, and phase III studies for this indication are on the way.Considering its impressive efficacy in this case, we suggest a prospective, multicenter study evaluating perampanel in PME.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.

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.

No MeSH data available.


Related in: MedlinePlus