As a model for haploinsufficiency in vitro knock down of RBFOX1 in primary human neural stem cells resulted in an altered expression and splicing of several epilepsy candidate genes (FLNA, SLC1A3, DCX, GABRB3, GAD2, KCNQ2, SLC12A5, SV2B, SYN1) [19]. The gene discussed is GABRB3; the disease is epilepsy.