BDNF and epilepsy: These genes include Slc6a12 and Slc38a5, which are related to traits like epilepsy, anxiety disorder, mental retardation, whose expression is downregulated as a consequence of the haploinsufficiency of Rai1. Furthermore, it was found that human RAI1 isoform 1 directly regulates the expression of BDNF (brain-derived neurotrophic factor) [75] which is a neurotrophin that regulates neuronal survival, differentiation and growth during brain development, among others.