Examples of “eVNTRs” include a VNTR in the 5′ UTR of AS3MT, which is strongly associated with AS3MT gene expression and lies in a schizophrenia associated locus4 and a 12-mer expansion upstream of the cystatin B (CSTB) gene is associated with gene expression and with progressive myoclonus epilepsy9,20. This evidence concerns the gene CSTB and schizophrenia.