Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University, via Montpellier 1, 00133 Rome, Italy.
Eur J Paediatr Neurol. 2012 Nov;16(6):582-6. doi: 10.1016/j.ejpn.2012.05.004. Epub 2012 Jun 12.
Tuberous sclerosis complex (TSC) is a leading genetic cause of epilepsy. TSC-associated epilepsy generally begins during the first year of life, and is associated with neurodevelopmental and cognitive problems. Management is challenging and seizures tend to persist in a large proportion of patients despite pharmacological and surgical treatment. This report summarizes the clinical recommendations for the management of TSC-associated epilepsy made by a panel of European experts in March 2012. Current treatment options and outstanding questions are outlined.
结节性硬化症(TSC)是导致癫痫的主要遗传病因之一。TSC 相关的癫痫通常在出生后的第一年就开始发作,并伴有神经发育和认知问题。尽管进行了药物和手术治疗,癫痫仍难以控制,很大一部分患者的癫痫会持续存在。本报告总结了 2012 年 3 月一组欧洲专家就 TSC 相关癫痫的管理提出的临床建议。概述了当前的治疗选择和未解决的问题。