钠通道病是由基因突变引起的遗传性疾病,包括钠电压门控通道α亚基1(SCN1A),导致几种癫痫综合征。使用钠通道阻断剂的传统治疗通常具有有限的有效性和副作用。德拉韦综合征(DS),从婴儿期开始的严重癫痫,提出了重大的治疗挑战。Perampanel(PER),非竞争性α-氨基-3-羟基-5-甲基-4-异恶唑丙酸(AMPA)受体拮抗剂,对DS表现出了希望,减少癫痫发作频率,提高生活质量(QoL)。DS中关于PER的随机对照试验的有限可用性是具有挑战性的,但是对难治性癫痫的更广泛研究提供了见解。真实世界的研究支持PER的功效,强调其管理DS难治性癫痫发作的潜力。研究表明,在减少癫痫发作频率和提高QoL方面具有长期有效性。虽然PER对认知发展的影响很小,它显著改善了癫痫的控制。许多研究证实使用PER作为DS的有效辅助治疗;然而,观察安全状况至关重要,尤其是小儿钠通道病患者。常见的副作用包括头晕,困倦,和烦躁,需要谨慎管理。长期安全总体上是有利的,但是监测行为和情绪变化是必不可少的。此外,DS对PER的反应差异很大,使其使用复杂化。有限的临床数据和需要仔细的剂量监测,尤其是在儿童中,提出了重大挑战。副作用,潜在的药物相互作用,和高成本进一步复杂的治疗。尽管人们越来越关注其成本效益,在某些地区,可访问性仍然有限,对许多家庭构成重大障碍。在本文中,我们回顾了PER在治疗儿童DS患者中的作用,强调临床证据和实际考虑。
Sodium channelopathies are genetic disorders caused by mutations in genes, including sodium voltage-gated channel alpha subunit 1 (SCN1A), that lead to several epilepsy syndromes. Traditional treatments with sodium channel blockers often have limited effectiveness and side effects. Dravet syndrome (DS), a severe epilepsy starting in infancy, presents significant treatment challenges. Perampanel (PER), a noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist, has shown promise for DS, reducing seizure frequency and improving quality of life (QoL). The limited availability of randomized controlled trials on PER among DS is challenging, but broader studies on refractory epilepsies offer insights. Real-world studies support PER\'s efficacy, underscoring its potential for managing refractory seizures in DS. Studies showed long-term effectiveness in reducing seizure frequency and enhancing QoL. While PER has minimal impact on cognitive development, it significantly improves seizure control. Numerous studies confirm the use of PER as an effective adjunctive treatment for DS; however, it is crucial to observe the safety profile, especially for pediatric sodium channelopathy patients. Common side effects include dizziness, drowsiness, and irritability, necessitating careful management. Long-term safety is generally favorable, but monitoring for behavioral and mood changes is essential. Additionally, the response to PER in DS varies widely, complicating its use. The limited clinical data and the need for careful dosage monitoring, especially in children, present significant challenges. Side effects, potential drug interactions, and high costs further complicate treatment. Despite increasing attention to its cost-effectiveness, accessibility remains limited in some regions, posing significant barriers for many families. In this paper, we review the role of PER in treating pediatric patients with DS, emphasizing clinical evidence and practical considerations.