The Evolution of Epilepsy Surgery in Tuberous Sclerosis in Sweden: a national registry study

Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by pathogenic heterozygous variants in the mechanistic target of rapamycin (mTOR) pathway regulators, TSC1 or TSC2 [1]. Disinhibition of mTOR leads to the growth of benign hamartomas in several organs. Epilepsy is the most prevalent neurological manifestation in patients with TSC, occurring in approximately 90% of patients and 80% <2 years of age, with about 40% presenting with infantile spasms [2]. Drug-resistant epilepsy occurs in two-thirds of patients with TSC compared with one-third of individuals in the general epilepsy population [1,2].

0