The identification of genes associated with nonsyndromic mental retardation that encode proteins in well-characterized synaptic pathways offers the possibility of developing pharmacologic treatments to target associated complications, such as epilepsy, in addition to improving cognitive processes. Moreover, current therapeutic approaches that are aimed at allowing the translation and production of a normal protein in a fraction of mRNAs bearing nonsense mutations24 would be relevant for at least two of the patients in our study.
