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 (mTOR) signaling pathway is a crucial cellular
signaling hub that, like the nervous system itself, integrates internal and external cues to …

Objective Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC)
and is often resistant to medication. Recently, the concept of preventive antiepileptic …

Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that
controls several important aspects of mammalian cell function. mTOR activity is modulated …

Background Tuberous sclerosis complex is highly variable in clinical presentation and
findings. Disease manifestations continue to develop over the lifetime of an affected …

Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …

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 …

Background Tuberous sclerosis complex is a genetic disorder leading to constitutive
activation of mammalian target of rapamycin (mTOR) and growth of benign tumours in …

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by the formation
of hamartomas in a wide range of human tissues. Mutation in either the TSC1 or TSC2 …