Studies of single-gene disorders with a high prevalence of autism such as Rett syndrome (mutations in MeCP2), fragile X syndrome (mutations in FMR1), tuberous sclerosis (mutations in TSC1/TSC2), neurofibromatosis (mutations in NF1), and macrocephaly (mutations in PTEN), point to the Akt/mTOR pathway as a good candidate for involvement in autism pathogenesis [2-5,36,40,41]. Here, TSC1 is linked to atypical Rett syndrome.