TSC2 and tuberous sclerosis: On the basis of these findings, although some clinical trials have been completed or initiated to test whether everolimus treatment might improve neurocognition, features of autism, and the neuropsychological deficits in children with TSC (clinicaltrials.gov study ID: NCT01289912, NCT01730209), in the present study we present a case of a family with a novel TSC2 mutation in which the behavioral phenotypes of a 3-year-old boy with TSC accompanied by severe autism could be dramatically improved by everolimus treatment.