Tuberous sclerosis is inherited in an autosomal dominant fashion, although sporadic mutations are found in over two-thirds of patients. Diagnosis can be made through (1) identification of a mutation in one of th
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in the skin and other organs, including brain, heart, lung, kidney and bones. TSC is caused by mutations inand. Here, we present theandvariants identified in 168 Danish individuals out of a cohort of...
Tuberous sclerosis complex (TSC), a heritable neurodevelopmental disorder, is caused by mutations in theTSC1orTSC2genes. To date, there has been little work to elucidate regionalTSC1andTSC2gene expression within the human brain, how it changes with age, and how it may influence disease. Using...
Tuberous sclerosis is a neurodevelopmental disease-involving mutations of the TSC1 or TSC2 genes. These genes code for inhibitors of central cell growth, and control the mechanistic target of rapamycin (mTOR) pathway. The gene mutations often cause childhood epilepsy and cognitive disorders. There ma...
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 TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now...
Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder affecting cellular differentiation, proliferation, and migration early in development, resulting in a variety of hamartomatous lesions that may affect virtually every organ system of the body. [1] It is associated with two gene...
Tuberous sclerosis complex (TSC) is a multisystem disorder that affects numerous organ systems. Brain lesions that form during development, known as tubers, are highly associated with epilepsy, cognitive disability, and autism. Following the identification of two genes and their encoded proteins, TSC...
in a variety of hamartomatous lesions that may affect virtually every organ system of the body.[1]It is associated with two genetic loci:TSC1, located on chromosome 9q34, andTSC2, located on chromosome 16p13. Mutations in either of these genes can lead to the clinical phenotype.[2] ...
Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively. The hamartin–tuberin complex inhibits ...
Genetic testing of TSC1 and TSC2 is important for the diagnosis of tuberous sclerosis complex (TSC), an autosomal dominant neurocutaneous disease. This study retrospectively reviewed 347 samples from patients with clinically suspected TSC being tested for mutations in TSC1 and TSC2 genes using next...