背景:自限婴儿癫痫(SeLIE)是一种良性癫痫。以前的研究表明,大多数抗癫痫药物的单一疗法可以有效缓解SeLIE患者的癫痫发作,但左乙拉西坦的疗效尚未研究。
目的:本研究旨在探讨左乙拉西坦治疗具有PRRT2突变的SeLIE患者的疗效。
方法:39例SeLIE患者的临床资料(男21例,女18例,年龄4.79±1.60个月)的PRRT2或16p11.2微缺失致病变异进行回顾性分析。根据初始抗癫痫药物(ASM)的使用,将患者分为两组:左乙拉西坦组(LEG)和其他ASM组(OAG)。比较两组疗效差异。
结果:在39名SeLIE患者中,16人是LEG(10名男性和6名女性,年龄5.25±2.07个月),其中2人获得无癫痫发作状态(12.50%),14人无效或甚至恶化(87.50%)。在14例无效或恶化的病例中,13例癫痫发作控制后,用其他ASM包括托吡酯代替左乙拉西坦后,奥卡西平,拉莫三嗪,和丙戊酸盐,其余的在3岁时终于达到缓解。在39名患者中,23名OAG(男性11名,女性12名;年龄4.48±1.12个月),其中22人癫痫发作缓解,除了一名最初使用托吡酯无效,而用奥卡西平缓解的患者。虽然两组在性别和发病年龄上没有显著差异,有效率有显著差异(LEG中12.50%与OAG中为95.65%(P<0.01)。
结论:研究结果表明,PRRT2突变引起的SeLIE患者不能从使用左乙拉西坦中获益,但可以从其他ASM中受益。
Self-limited infantile epilepsy (SeLIE) is a benign epilepsy. Previous studies have shown that monotherapy with most antiseizure medications can effectively relieve seizures in patients with SeLIE, but the efficacy of levetiracetam has not been investigated.
This study aimed to investigate the efficacy of levetiracetam in the treatment of SeLIE patients with PRRT2 mutations.
The clinical data of 39 SeLIE patients (21 males and 18 females, aged 4.79 ± 1.60 months) with pathogenic variants in PRRT2 or 16p11.2
microdeletion were retrospectively analyzed. Based on the use of initial antiseizure medication (ASM), the patients were classified into two groups: Levetiracetam group (LEG) and Other ASMs group (OAG). The difference of efficacy between the two groups was compared.
Among the 39 SeLIE patients, 16 were LEG (10 males and 6 females, aged 5.25 ± 2.07 months), with whom two obtained a seizure-free status (12.50%) and 14 ineffective or even deteriorated (87.50%). Among the 14 ineffective or deteriorated cases, 13 were seizure-controlled after replacing levetiracetam with other ASMs including topiramate, oxcarbazepine, lamotrigine, and valproate, and the remaining one finally achieved remission at age 3. Of the 39 patients, 23 were OAG (11 males and 12 females; aged 4.48 ± 1.12 months), of whom 22 achieved seizure remission, except for one patient who was ineffective with topiramate initially and relieved by oxcarbazepine instead. Although there were no significant differences in gender and age of onset between the two groups, the effective rate was significantly different (12.50% in LEG vs. 95.65% in OAG) (P < 0.01).
The findings showed that patients with SeLIE caused by the PRRT2 mutations did not benefit from the use of levetiracetam, but could benefit from other ASMs.