In addition to FD, which results from a splice site mutation in IKBKAP/ELP1, allelic variation in other Elongator subunits is associated with ALS (ELP3), intellectual disability (ELP 2 and 4), autism spectrum disorder (ELP4), and Rolandic epilepsy (ELP4)39–42. Here, NR5A1 is linked to Rolandic epilepsy.