Using GeneMatcher (20), we initially identified three individuals with epilepsy and/or neurodevelopmental phenotypes who carried heterozygous AJAP1 variants coding for two missense variants with high Combined Annotation Dependent Depletion (CADD) scores (≥20) (21), and one frameshift variant: p.(W183C), p.(P242S), and p.(I271Ffs*24) (Table 1, individuals 1 to 3). Here, AJAP1 is linked to epilepsy.