Prenatal diagnosis and intervention improve developmental and epilepsy outcomes in children with tuberous sclerosis

??:????????????????????(TSC)??????????? ??:??????????TSC?????????273??????TSC??(??138?,??145?),???2.0-7.5???,?????4.41.5?????????TSC1/TSC2????,???????2????????????????????????????????????????????????TSC?????? ??:?????????????????????(p=0.027)???????,?????????????????????????(p =0.008)????????????????????????????????,???????????????????????????????(p <0.05)? ?? ??????,????????????????????????????????,?????????????????????????????????????????????????????????????

Automated summary

Tuberous sclerosis complex (TSC) is a rare genetic disease, and the severity of the condition varies depending on the mutations in TSC1/TSC2 genes. A study found that variations in the ATM and CHEK2 genes in TSC patients were associated with an increased risk of developing brain tumors. These findings are important for predicting disease progression and personalizing treatment strategies.