CRTC1 and tuberous sclerosis: In 2012, the International TSC Clinical Consensus Group updated the clinical criteria for TSC and proposed the genetic diagnostic criterion, whereby detection of a pathogenic DNA variant in either the TSC1 or TSC2 gene in normal tissue is sufficient for a definite diagnosis of TSC if it prevents protein synthesis or hyperactivates TORC1 according to a functional assay [1,2].