title: Efficacy and tolerability of perampanel in ten patients with Lafora disease.
abstract: Lafora disease (LD) is a fatal intractable adolescence-onset progressive myoclonus epilepsy. Recently, two single-case studies reported drastic reductions in seizures and myoclonus with the AMPA antagonist perampanel and improved activities of daily living. We proceeded to study the effect of perampanel on 10 patients with genetically confirmed LD with disease duration ranging from 2 to 27years. Open-label perampanel was added to ongoing medications to a mean dose of 6.7mg/day. Seizures, myoclonus, functional disability, and cognition scores were measured for the third and ninth months following initiation and compared with those of the month prior to the start of therapy. Three patients withdrew because of inefficacy or side effects. Four had significant reduction in seizures of greater than 74% from baseline. Seven had major improvement in myoclonus with group-adjusted sum score of myoclonus intensity reduced from 7.01 at baseline to 5.67 and 5.18 at 3 and 9months, respectively. There was no significant improvement in disability and cognition. While not universal, perampanel adjunctive therapy appears to confer particular benefit not commonly seen with other antiepileptic drugs on seizures and myoclonus in LD. Improvement in the extremely disabling myoclonus of LD is a major benefit in this devastating disease.
authors.affiliation: Chelsea's Hope: Lafora Children Research Fund, Danville, CA, USA; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Danielle
authors.initials: D
authors.lastname: Goldsmith
authors.affiliation: Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; The Institute of Medical Science and The Department of Paediatrics (Neurology), University of Toronto, ON, Canada. Electronic address: berge.minassian@sickkids.ca.
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000009:adverse effects / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D020192:Lafora Disease / Q000188:drug therapy*; D008297:Male; D009207:Myoclonus / Q000188:drug therapy*; D009570:Nitriles; D011728:Pyridones / Q000009:adverse effects / Q000627:therapeutic use*; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; D009570:Nitriles; D011728:Pyridones; C551441:perampanel
keywords: Antiepileptic; Lafora disease; Perampanel; Progressive myoclonus epilepsy