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 …

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 …

Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …

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 …

Background Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used
for various benign tumours associated with tuberous sclerosis complex. We assessed the …

Importance Efficacy of cannabidiol has been demonstrated in seizures associated with
Lennox-Gastaut and Dravet syndromes but appears not yet to have been established in …

Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …

Since its first clinical description (on his son) by William James West (1793–1848) in 1841,
and the definition of the classical triad of (1) infantile spasms;(2) hypsarrhythmia, and (3) …

Background Tuberous sclerosis complex is a genetic disorder affecting every organ system,
but disease manifestations vary significantly among affected individuals. The diverse and …

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 …