Similarly to what has been previously demonstrated for TBK1, a statistically significant excess of loss-of-function variants between large ALS cohorts of patients and controls has been observed for NEK1 [54,55], while an enrichment of variants affecting the splicing of exon 27 has been described for the KIF5A gene [19,56]. The gene discussed is TBK1; the disease is amyotrophic lateral sclerosis.