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

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 …

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

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

In the past two decades, significant progress has been made in the past two decades
towards the understanding of the basic mechanisms underlying cancer growth and …

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 …

Febrile Infection-Related Epilepsy Syndrome (FIRES) is a unique catastrophic epilepsy
syndrome, and the development of drug-resistant epilepsy (DRE) is inevitable. Recently …

Developmental and epileptic encephalopathies (DEEs) are among the most challenging of
all epilepsies to manage, given the exceedingly frequent and often severe seizure types …

Epilepsy is a highly prevalent neurological disorder, affecting between 5–8 per 1000
individuals and is associated with a lifetime risk of up to 3%. In addition to high incidence …

Background: Cardiac rhabdomyomas (CRs) are the earliest sign of tuberous sclerosis
complex (TSC). Most of them spontaneously regress after birth. However, multiple and/or …