结节硬化症相关性癫痫治疗进展

doi:10.12372/jcp.2022.21e1280

摘要/Abstract

摘要：

结节硬化症（TSC）患者癫痫发生率非常高,多始于婴儿期。mTOR信号通路的过度活化及局灶性皮质发育不良是TSC相关性癫痫重要的发生机制。癫痫样异常脑电活动能够有效预测后续癫痫的发生。脑电图是记录癫痫样异常脑电活动的主要手段。预防性应用氨己烯酸能够有效抑制TSC相关性癫痫发作,保护神经功能。抗癫痫药物、mTOR抑制剂、癫痫手术、生酮饮食、迷走神经刺激术是目前TSC相关性癫痫常用的治疗方案。文章围绕TSC相关性癫痫治疗的最新研究进展作一综述。

关键词: 结节硬化症, 癫痫, 治疗

Abstract:

Patients with tuberous sclerosis complex (TSC) are at high risk of epilepsy, most of which begins in infancy. Excessive activation of mTOR signaling pathway and focal cortical dysplasia are important mechanisms for TSC-related epilepsy. Epileptiform abnormal electrical brain activity can effectively predict the occurrence of subsequent epileptic seizure. Electroencephalogram is the main method of recording epileptic abnormal brain electrical activity. Prophylactic use of vigabatrin will effectively inhibit the chance of TSC-related epilepsy and protect neurodevelopment. Antiepileptic drugs, mTOR inhibitors, epileptic surgery, ketogenic diet and vagal nerve stimulation are commonly used therapeutic schedules for TSC-related epilepsy. In this paper, the latest research progress on the treatment of TSC-related epilepsy will be described.

Key words: tuberous sclerosis complex, epilepsy, therapy

田启龙（综述）, 王举磊（审校）. 结节硬化症相关性癫痫治疗进展[J]. 临床儿科杂志, 2022, 40(4): 311-315.

Reviewer: TIAN Qilong, Reviser: WANG Julei. Research progress in the treatment of epilepsy associated with tuberous sclerosis complex[J]. Journal of Clinical Pediatrics, 2022, 40(4): 311-315.

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