Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Expert Opin Pharmacother. 2022 Sep;23(13):1511-1522. doi: 10.1080/14656566.2022.2105141. Epub 2022 Jul 26.
Approximately 80-90% of patients with Angelman syndrome (AS) develop childhood-onset intractable seizures with major negative impact on the quality of life. Thus adequate management of seizures is the most critical priority to improve health-related quality of life in children with AS.
The primary focus of the review is on pharmacotherapeutic management of seizures. To better comprehend pharmacotherapeutic decision-making, the first section of the paper briefly examines epileptogenesis and polymorphic seizure morphologies related to AS. Next, the review explores individual antiseizure medications (ASMs) and their potential therapeutic utility. Lastly, some future and emerging treatment options are discussed that can transform the management of seizures in patients with AS.
Evidence for treating seizures in AS mainly derives from low-quality studies. Levetiracetam and clobazam are the most commonly used ASMs. Although the potential utility of several other ASMs(valproate, topiramate, lamotrigine, ethosuximide, clonazepam) has been well documented for some time, the treatment landscape may rapidly evolve due to the availability of newer and better tolerated ASMs(cannabidiol oil, brivaracetam, perampanel). In addition, a better understanding of the underlying pathogenesis and the development of molecular therapeutics offer hope for precision therapies for seizures.
大约 80-90%的 Angelman 综合征（AS）患者会出现儿童期起病的难治性癫痫，对生活质量有重大负面影响。因此，充分管理癫痫发作是改善 AS 儿童健康相关生活质量的最关键优先事项。
本综述的主要重点是癫痫的药物治疗管理。为了更好地理解药物治疗决策，本文首先简要探讨了癫痫发生和与 AS 相关的多态性发作形态。接下来，综述探讨了个体抗癫痫药物（ASM）及其潜在的治疗效用。最后，讨论了一些未来和新兴的治疗选择，这些选择可以改变 AS 患者的癫痫发作管理。
治疗 AS 中癫痫的证据主要来自低质量的研究。左乙拉西坦和氯巴占是最常用的 ASM。尽管一些其他 ASM（丙戊酸钠、托吡酯、拉莫三嗪、乙琥胺、氯硝西泮）的潜在效用已经有一段时间了，但由于新型和耐受性更好的 ASM（大麻二酚油、布瓦西坦、吡仑帕奈）的可用性，治疗领域可能会迅速发展。此外，对潜在发病机制的更好理解和分子治疗的发展为癫痫的精准治疗提供了希望。
