Infantile spasms and early-onset progressive polycystic renal lesions associated with TSC2/PKD1 contiguous gene deletion syndrome

Tuberous sclerosis complex (TSC) is a well-known autosomal dominant multisystem disorder characterized by hamartomas in different organs.1 Mutations in TSC1 and TSC2 genes encoding hamartin and tuberin, respectively, suppress the mammalian target of rapamycin (mTOR) inhibition leading to the disruption of the regulation of cell proliferation and differentiation.1 The neurological complications of TSC, includes epilepsy, cognitive impairment, and autism, and about 75% of patients had pharmacoresistant epilepsy.

31
ENE
0