title: Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease).
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
authors: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.
authors: Kathrin
authors: K
authors: Schorlemmer
authors: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.
authors: Sebastian
authors: S
authors: Bauer
authors: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.
authors: Marcus
authors: M
authors: Belke
authors: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.
authors: Anke
authors: A
authors: Hermsen
authors: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.
authors: Karl Martin
authors: KM
authors: Klein
authors: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.
authors: Philipp S
authors: PS
authors: Reif
authors: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.
authors: Wolfgang H
authors: WH
authors: Oertel
authors: Department of Epileptology, University of Bonn, Germany.
authors: Wolfram S
authors: WS
authors: Kunz
authors: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.
authors: Susanne
authors: S
authors: Knake
authors: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.
authors: Felix
authors: F
authors: Rosenow
authors: Department of Neurology and Epilepsy Center Hessen, Philipps-University, Marburg, Germany.
authors: Adam
authors: A
authors: Strzelczyk
keywords: EPM2A; Epilepsy; Lafora; Myoclonus; Perampanel; Progressive myoclonic epilepsy