Progress of clinical research studies on tuberous sclerosis complex-related epilepsy in China.

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome, with 75.6%-83.5% and 54.1% patients presenting with epilepsy and drug-resistant epilepsy (DRE), respectively. Clinical studies on TSC, particularly surgical interventions, have achieved rapid and substantial progress. The TSC-Task Force Committee of the China Association Against Epilepsy (CAAE-TFTSC) was founded in 2012, and annual academic conferences on the surgical treatment of TSC-related epilepsy have been held since 2013. 'China experts' consensus on surgical treatment of TSC-related epilepsy' was published in 2019. This review focuses on surgical treatment, including resective surgery, neuromodulations, corpus callosotomy and mini-invasive ablations, as well as studies on phenotype, genotype and anti-seizure therapies of mammalian target of rapamycin inhibitor, vigabatrin and ketogenic diet in patients with TSC-related DRE in China.