Introduction: 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.
Areas covered: 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.
Expert opinion: 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.
Keywords: Angelman syndrome; UBE3A; epilepsy; gene; medicine; molecular therapy; seizures.