perampanel and Unverricht-Lundborg-Syndrome

Perampanel is an α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist that has been marked as an antiepileptic drug for partial-onset and primary generalized tonic-clonic seizures. There have been some recent reports of perampanel being effective against cortical myoclonus by Lafora disease and Unverricht-Lundborg disease. We herein report a 49-year-old man who presented with myoclonus due to Lance-Adams syndrome (LAS) after cardiopulmonary arrest caused by a severe bronchial asthma attack. Perampanel was very effective against myoclonus induced by LAS even in the chronic state, over 10 years after the remote onset. Perampanel should be considered for the treatment of extremely refractory myoclonus due to LAS.

Topics: Anticonvulsants; Asthma; Heart Arrest; Humans; Lafora Disease; Male; Middle Aged; Myoclonus; Nitriles; Pyridones; Receptors, AMPA; Severity of Illness Index; Treatment Outcome; Unverricht-Lundborg Syndrome

Topics: Anticonvulsants; Evoked Potentials, Somatosensory; Female; Humans; Nitriles; Pyridones; Treatment Outcome; Unverricht-Lundborg Syndrome; Young Adult

We report a 32-year-old female who presented myoclonus and generalized tonic-clonic seizure since she was 9 year-old. Thereafter, she was diagnosed as Unverricht-Lundborg disease by gene analysis. Although the epileptic seizures were controlled by multiple antiepileptic drugs, her cortical myoclonus remained intractable, which severely interfered her activity of daily living. On admission to our hospital, she presented mild cognitive impairment, dysarthria, severe postural and action myoclonus in all the limbs, severe impairment of coordinative movements, inability of standing and walking by herself, and severe basophobia. After administration of perampanel, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist, with initial dose of 1 mg/day, and then 16 days later it was increased up to 2 mg/day, the myoclonus dramatically improved and the basophobia also lessened about in 30 days since it started. Moreover, abnormally enlarged amplitudes of short latency somatosensory evoked potentials by median nerve stimulation decreased, which suggested the reduction of abnormal cortical hyperexcitability mainly in the primary sensori-motor cortices. We presented that perampanel is the effective drug for treating the refractory cortical myoclonus and basophobia even with small dosage.

Topics: Adult; Anticonvulsants; Evoked Potentials, Somatosensory; Female; Humans; Nitriles; Pyridones; Receptors, AMPA; Sensorimotor Cortex; Treatment Outcome; Unverricht-Lundborg Syndrome

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.

Topics: Adolescent; Adult; Anticonvulsants; Electroencephalography; Female; Humans; Male; Middle Aged; Mutation; Neoplasm Proteins; Nitriles; Pyridones; Receptors, Cell Surface; Shaw Potassium Channels; Treatment Outcome; Unverricht-Lundborg Syndrome; Young Adult