Phosphatidylinositide 3 kinases (PI3Ks) and their downstream mediators AKT and
mammalian target of rapamycin (mTOR) constitute the core components of the …

Tuberous sclerosis is a genetic multisystem disorder characterised by widespread
hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver …

Article abstract Autism is a common disorder of childhood, affecting 1 in 500 children. Yet, it
often remains unrecognized and undiagnosed until or after late preschool age because …

The Child Neurology Society and American Academy of Neurology recently proposed to
formulate Practice Parameters for the Diagnosis and Evaluation of Autism for their …

Many of the neurocutaneous disorders are more common than once suspected, in part
because patients with milder forms of the disorders are now more likely to be recognized …

Background. Intellectual impairments are a recognized feature of tuberous sclerosis
complex (TSC), but the frequency and degree of intellectual impairments has not been …

At the recent Tuberous Sclerosis Consensus Conference, a subcommittee proposed
recommendations to guide the rational use of diagnostic studies in patients with tuberous …

Background Tuberous sclerosis (TS) is a multisystem genetic disorder that is associated with
mental retardation, autism, and atypical autism. We investigated the basis for these …

Objective: In patients with tuberous sclerosis complex (TSC), associations between tuber
number, infantile spasms, and cognitive impairment have been proposed. We hypothesized …

Epilepsy is very common in tuberous sclerosis complex and occurs in 80 to 90% of affected
individuals during their lifetime. Onset usually occurs during childhood, and up to one third …