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

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 myoclonu

SUBMITTER: Schorlemmer K 

PROVIDER: S-EPMC4150630 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature