Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic
neurobehavioral disorders associated with developmental impairments in social …

The developmental and epileptic encephalopathies encompass a group of rare syndromes
characterised by severe drug-resistant epilepsy with onset in childhood and significant …

Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …

Co-occurring medical disorders and associated physiological abnormalities in individuals
with autism spectrum disorder (ASD) may provide insight into causal pathways or underlying …

The Ras-MAPK and PI3K-AKT-mTOR signaling cascades were originally identified as
cancer regulatory pathways but have now been demonstrated to be critical for synaptic …

The mammalian target of rapamycin (mTOR) is an ubiquitously expressed serine-threonine
kinase, which senses and integrates several intracellular and environmental cues to …

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic
macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic …

Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by mutations in the
TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the …

Tuberous sclerosis complex (TSC) is associated with a wide range of behavioral,
psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties, which …

Objective To investigate whether mammalian target of rapamycin inhibitor everolimus can
improve intellectual disability, autism, and other neuropsychological deficits in children with …