Tuberous sclerosis complex (TSC) is a relatively common autosomal dominant genetic disorder affecting 1/14,000–1/6000 Western populations. The incidence of TSC in Chinese population is still unknown although case reports of Chinese TSC patients were documented. The main clinical features of TSC include seizures, mental retardation, and the development of hamartomas in multiple organs such as th...

Major conceptual advances in the area of paediatric neurosciences have been made in the last few years, mainly due to both molecular genetics, whereby the neurological phenotypes are now tentatively correlated with specific genotypes, and functional neuroimaging, whereby the neurological signs can be mapped to specific regions or circuits in the brain. Tuberous sclerosis (TSC), a common multisy...

Radiol Bras. 2017 Jan/Fev;50(1):IX–X Tuberous sclerosis complex (TSC) is a genetic syndrome that predisposes to the formation of benign tumors, commonly known as hamartomas. It affects approximately 1 in 6,000 individuals, regardless of race or ethnicity. During the 1990s, more than 300 allelic variants of the TSC1 gene were reported, as were more than 1,000 allelic variants of the TSC2 gene. W...

UNLABELLED Cardiac rhabdomyoma is the most common primary cardiac tumor, is considered to be a hamartoma of developing cardiac myocytes. Cardiac rhabdomyoma is associated with tuberous sclerosis complex (TSC) in 50-86% of cases. Mutations in TSC-1/TSC-2 genes result in increased mammalian target of rapamycin (mTOR) pathway activation responsible for the hamartomatous lesions of tuberous scleros...

BACKGROUND Epilepsy is a common neurologic complication of tuberous sclerosis complex (TSC) and it is often refractory to treatment. Therefore, treating physicians are often reluctant to discontinue antiepileptic drugs (AEDs) in individuals with TSC who have attained seizure remission. To our knowledge, seizure remission and AED discontinuation in children with TSC has not been studied. OBJEC...

Tuberous sclerosis complex (TSC) is a genetic multiple organ system disorder that is characterized by the development of tumor-like lesions (hamartomas) and neurodevelopmental disorders. Mutations in the TSC1 and TSC2 tumor suppressor genes occur in the majority of patients with TSC, resulting in hyperactivation of the mammalian target of rapamycin (mTOR) signaling pathway and subsequent abnorm...

Colony stimulating factor 1 receptor (CSF-1R) regulates the monocyte/macrophage system, which is an essential component of cancer development. Therefore, CSF-1R might be an effective target for anti-cancer therapy. The overexpression of transforming growth factor (TGF)-β stimulated clone-22 (TSC-22) inhibits cancer cell proliferation and induces apoptosis, and TSC-22 is emerging as a key factor...

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic syndrome. The hallmark of the disease is multiple hamartomatous lesions in multiple organ systems. Common cardiac manifestations of TSC are rhabdomyomas, which are a benign tumor of striated muscle. In some patients with TSC, myocardial fatty foci (MFF) deposition has been described with or without the presence of rhabdomyoma...

The output feedback pole placement problem of linear systems with static or dynamic compensators belongs to the classical problems in control theory and many theoretical and numerical research papers were already devoted to this problem. Although the considered systems are linear, the problem requires the solution of an over determined system of quadratic polynomial equations. A lot of progress...

Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic inactivation of wild-type alleles drives MTOR activation; however, second hits to TSC1/TSC2 are not always observed. Here, we present the geno...