Perampanel in 12 patients with Unverricht-Lundborg disease.
Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (ULD) to evaluate its efficacy against myoclonus and seizures.



We treated 11 patients with EPM1 mutations (6 F, 5 M, aged 13-62 years) and a 43-year-old man with de novo KCNC1 mutation. PER was introduced by 2 mg steps at 2-4 week intervals until 6 mg/day, with a possible dose reduction or dose increase.



Ten patients had a clear clinical response of myoclonus, and five were able to reduce concomitant therapy. Improvement was noted sometimes as soon as with 2 mg/day. Epileptic seizures stopped on PER in the six patients who still had experienced generalized tonic-clonic or myoclonic seizures (100%). Some abatement of efficacy on myoclonus was seen in two patients who still retained some benefit. Weight gain was reported in six patients (50%). Psychological and behavioral side-effects were observed in six patients (50%) and led to withdrawal of PER in three cases and dose reduction in three, with abatement of the problems.



This study provides evidence that for ULD patients, PER may show marked efficacy even in severe cases, particularly against myoclonus, but also against seizures. PER should thus be tried in ULD patients whose seizures are not satisfactorily controlled. Its use is limited because of psychological and behavioral side effects, with higher doses of approximately 6 mg/day or greater likely risk factors.
Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France.|Research Unit (URCMA: Unité de Recherche sur les Comportements et Mouvements Anormaux), INSERM, U661, Montpellier, France.
Arielle
A
Crespel
Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France.|Research Unit (URCMA: Unité de Recherche sur les Comportements et Mouvements Anormaux), INSERM, U661, Montpellier, France.
Philippe
P
Gelisse
Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France.
Ngoc Phuong Loc
NP
Tang
Centre Saint Paul-H. Gastaut, Marseille, France.
Pierre
P
Genton
D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D009570:Nitriles; D011728:Pyridones / Q000627:therapeutic use*; D011956:Receptors, Cell Surface / Q000235:genetics; D051670:Shaw Potassium Channels / Q000235:genetics; D016896:Treatment Outcome; D020194:Unverricht-Lundborg Syndrome / Q000188:drug therapy* / Q000235:genetics; D055815:Young Adult
D000927:Anticonvulsants; C489597:KCNC1 protein, human; D009363:Neoplasm Proteins; D009570:Nitriles; D011728:Pyridones; D011956:Receptors, Cell Surface; D051670:Shaw Potassium Channels; C097051:epithelial membrane protein-1; C551441:perampanel
Myoclonus; Perampanel; Side effects; Unverricht-Lundborg disease