*4.5. Point Mutations in MeCP2, CDKL5, and FOXG1*

Point mutations in CDKL5, FOXG1, and MeCP2 were identified from RettBASE (http://mecp2.chw. edu.au/) [79]. The amount of mutations variants in general in RettBASE are 929, 298, and 44 for MeCP2, CDKL5, and FOXG1, respectively. We only selected missense mutations that were associated with pathogenic RTT. Additionally, non-pathogenic polymorphisms in the general population for comparison were extracted from the Exome Aggregation Consortium database (http://exac.broadinstitute.org) [80].
