| 摘要: |
| 结节性硬化症(tuberous sclerosis complex,TSC)是一种常染色体显性遗传的神经皮肤综合征,致病基因TSC1、TSC2分别位于常染色体9q34、16p13.3的抑癌基因[1-2] 。TSC1、TSC2基因突变引起哺乳动物雷帕霉素靶蛋白(mTOR)信号通路异常激活,可在脑、皮肤、肾脏、心脏、肝脏、肺等多器官形成良性错构瘤。TSC人群患病率为1/6 000,约70%患者为散发[3]。1908 年德国神经病学家Heinrich Vogt总结TSC典型三联征,即面部血管纤维瘤、癫痫发作和智力减退。癫痫发作是TSC的常见临床症状,严重影响患者生活质量。本文旨在对TSC患者癫痫发作的临床特征及治疗进展进行综述,以期能更
好了解TSC伴癫痫发作的特点并为临床治疗提供参考。 |
| 关键词: |
| DOI：10.13407/j.cnki.Jpp.1672-108X.2017.04.019 |
|
| 基金项目: |
|
| Clinical Features and Treatment Progress of Epilepsy Associated with Tuberous Sclerosis Complex |
| Yang Kunkun, Jiang Li |
| (Children's Hospital of Chongqing Medical University, Ministy of Education Key Laboratory of Child Development and Disorder, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China) |
| Abstract: |
|
| Key words: |
