Recent Studies from Army Medical University Add New Data to Tuberous Sclerosis (A Novel tsc2 C.2489t>c Missense Variant Associated With Tuberous Sclerosis Complex).

A recent report from Army Medical University in Chongqing, People's Republic of China, discusses the case of a patient with tuberous sclerosis complex (TSC), a genetic disorder characterized by hamartomas in various organs. The patient presented with epilepsy and underwent genetic testing to confirm the diagnosis. The study highlights the importance of considering TSC in patients with broad clinical manifestations and provides insights into the impact of genotype on the prognosis and treatment strategies for TSC-related refractory epilepsy. The research was supported by the Natural Science Foundation of Chongqing. [Extracted from the article]