Alyazidi Anas S, Muthaffar Osama Y, Bamaga Ahmed K, AlAtwi Noura A, Alshihri Suzan A, Aljezani Maram A
Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, SAU.
Pediatrics, King Abdulaziz University, Jeddah, SAU.
Cureus. 2024 Jul 20;16(7):e65017. doi: 10.7759/cureus.65017. eCollection 2024 Jul.
Sodium channelopathies are genetic disorders caused by mutations in genes, including sodium voltage-gated channel alpha subunit 1 (, 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.
钠通道病是由基因突变引起的遗传性疾病，这些基因包括钠电压门控通道α亚基1（ ），可导致多种癫痫综合征。使用钠通道阻滞剂的传统治疗方法往往效果有限且有副作用。德雷维特综合征（DS）是一种始于婴儿期的严重癫痫，带来了重大的治疗挑战。吡仑帕奈（PER）是一种非竞争性α-氨基-3-羟基-5-甲基-4-异恶唑丙酸（AMPA）受体拮抗剂，已显示出对DS有治疗前景，可降低癫痫发作频率并改善生活质量（QoL）。DS患者中关于PER的随机对照试验有限，这具有挑战性，但对难治性癫痫的更广泛研究提供了见解。真实世界研究支持PER的疗效，强调了其在管理DS难治性癫痫发作方面的潜力。研究表明其在降低癫痫发作频率和提高生活质量方面具有长期有效性。虽然PER对认知发育影响极小，但能显著改善癫痫控制。大量研究证实PER可作为DS的有效辅助治疗；然而，观察安全性概况至关重要，尤其是对于儿童钠通道病患者。常见副作用包括头晕、嗜睡和易怒，需要谨慎管理。长期安全性总体良好，但监测行为和情绪变化至关重要。此外，DS患者对PER的反应差异很大，使其使用变得复杂。有限的临床数据以及对仔细剂量监测的需求，尤其是在儿童中，带来了重大挑战。副作用、潜在药物相互作用和高成本使治疗更加复杂。尽管对其成本效益的关注度不断提高，但在某些地区可及性仍然有限，给许多家庭带来了重大障碍。在本文中，我们回顾了PER在治疗DS儿科患者中的作用，强调临床证据和实际考虑因素。
