Advances in the genetic mechanism of tuberous sclerosis complex

VernacularTitle:结节性硬化症的遗传学机制研究进展
Author: Yi WANG ; Hao ZHOU
Publication Type:Journal Article
Keywords: Tuberous sclerosis complex; Pathogenesis; Neurology; Genetics
From: Chinese Journal of Applied Clinical Pediatrics 2015;30(24):1841-1844
CountryChina
Language:Chinese
Abstract: Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that has an impact on many organ systems.It is a common neurocutaneous syndrome in children, the main clinical manifestations characterized by impairment of skin and nervous system.The most frequent neurological symptoms are seizures,which occur in up to 90％ of patients and often are intractable,followed by autism spectrum disorders, intellectual disability, attention deficit-hyperactivity disorder, and sleep, et al.Conventional treatment has frequently proven insufficient for neurological and behavioral symptoms, particularly seizure control.Currently, there are many studies focus on the mechanism-based treatment in TSC.Therefore, this review will focus on the genetic mechanism of TSC, further exploring personalized medicine and prognosis for TSC shows good prospects.