An analysis of the whole-exome sequence data from familial ALS index patients was compared with data from 827 control individuals, and significant enrichment of loss-of-function variants of NEK1 (0.57) was shown in FALS group compared with the control group (0.06), whereas mutations in known ALS genes were not detected in those patients carrying NEK1 mutations [42]. The gene discussed is NEK1; the disease is amyotrophic lateral sclerosis.