Research has focused on a subset of these events, for either their genetic links to ALS/FTD (UNC13A), compelling roles in ALS pathogenesis (STMN2, KCNQ2, ATG4B and G3BP1), or utility as disease biomarkers (HDGFL2)8,9,13,14,16,17,26,27,40–42. Here, UNC13A is linked to amyotrophic lateral sclerosis.