A mutation in the IKBKAP gene encoding the human homologue of Elongator's largest subunit (Elp1) causes Familial Dysautonomia, a severe recessive neurodevelopmental disease (Anderson et al., 2001; Slaugenhaupt et al., 2001), while the human homologues of ELP3 and ELP4 have also been linked to the neurological disorders amyotrophic lateral sclerosis and rolandic epilepsy respectively (Simpson et al., 2009; Strug et al., 2009). The gene discussed is ELP1; the disease is Familial dysautonomia.