Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …

The mechanistic target of rapamycin complex I (mTORC1) is a central regulator of cellular
and organismal growth, and hyperactivation of this pathway is implicated in the …

The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …

Increases in the life expectancy of people with Intellectual Disability have followed similar
trends to those found in the general population. With the exception of people with severe …

Background Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date
have come from small studies and case reports, and very little is known about TAND in …

Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by
hamartomatous tumours of the brain, heart, skin, lung and kidney. Patients with TSC show a …

Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is
characterized by cellular and tissue dysplasia in several organs. With the advent of genetic …

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic
macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic …

Purpose To perform comprehensive genoty** of TSC1 and TSC2 in a cohort of 94 infants
with tuberous sclerosis complex (TSC) and correlate with clinical manifestations. Methods …

Tuberous sclerosis complex (TSC) is associated with a wide range of behavioral,
psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties, which …