Crespel Arielle, Gelisse Philippe, Tang Ngoc Phuong Loc, Genton Pierre
Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France.
Research Unit (URCMA: Unité de Recherche sur les Comportements et Mouvements Anormaux), INSERM, U661, Montpellier, France.
Epilepsia. 2017 Apr;58(4):543-547. doi: 10.1111/epi.13662. Epub 2017 Feb 6.
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.
使用吡仑帕奈（PER）治疗12例Unverricht-Lundborg病（ULD）患者，以评估其对肌阵挛和癫痫发作的疗效。
我们治疗了11例携带EPM1突变的患者（6例女性，5例男性，年龄13 - 62岁）以及1例携带新发KCNC1突变的43岁男性。PER以2mg的剂量递增，每隔2 - 4周给药一次，直至达到6mg/天，必要时可减少或增加剂量。
10例患者的肌阵挛有明显临床反应，5例患者能够减少伴随治疗。有时在每天服用2mg时就已观察到改善。6例仍有全身强直阵挛或肌阵挛发作的患者在服用PER后癫痫发作停止（100%）。2例患者的肌阵挛疗效有所减退，但仍有一定获益。6例患者（50%）报告体重增加。6例患者（50%）观察到心理和行为方面的副作用，3例因此停药，3例减少剂量，副作用随之减轻。
本研究提供的证据表明，对于ULD患者，PER即使在严重病例中也可能显示出显著疗效，尤其是对肌阵挛，对癫痫发作也有疗效。因此，对于癫痫发作未得到满意控制的ULD患者应尝试使用PER。由于心理和行为方面的副作用，其使用受到限制，大约6mg/天及以上的较高剂量可能是危险因素。
