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 …

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 …

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20% of all
congenital malformations occurring in one in 500 live births. Worldwide, CAKUT are …

Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant neurocutaneous
disorder secondary to mutations in the TSC1 or TSC2 tumor suppressor genes. Although …

Tuberous sclerosis complex (TSC) is a model disorder for understanding brain development
because the genes that cause TSC are known, many downstream molecular pathways have …

Malformations of cortical development (MCD) can frequently be diagnosed at multi-
disciplinary Fetal Neurology clinics with the aid of multiplanar neurosonography and MRI …

Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis
Complex (TSC), but we are not still able to reliably predict which infants will develop ASD …

Objective To evaluate the relationship between age at seizure onset and
neurodevelopmental outcome at age 24 months in infants with TSC, as well as the effect on …

The autosomal dominant disorder tuberous sclerosis complex (TSC) is characterized by an
array of manifestations both within and outside of the central nervous system (CNS) …

Objective Historically, epilepsy has been the most frequently presenting feature of tuberous
sclerosis complex (TSC). Advances in TSC health care have occurred over the past decade; …