Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that presents with
diverse and complex clinical features and involves multiple human systems. TSC-related …

Patients with tuberous sclerosis complex (TSC) are at very high risk for developing epilepsy,
and the majority experience seizure onset during the first year of life. Early targeted …

Vascular malformations are inborn errors of vascular morphogenesis and consist of
localized networks of abnormal blood and/or lymphatic vessels with weak endothelial cell …

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 mechanistic target of rapamycin (mTOR) is a kinase at the center of an evolutionarily
conserved signaling pathway that orchestrates cell growth and metabolism. mTOR responds …

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 …

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

Background The treatment of tuberous sclerosis complex (TSC) using mammalian target of
rapamycin (mTOR) inhibitors is clinically promising. The aim of the present study was to …

During the past decade, there have been considerable advances in understanding of the
genetic and morphogenic processes underlying cortical malformations and developmental …

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder with epilepsy as a
common and early presenting symptom. The neurological phenotype, however, is variable …