However, these variants have been detected in exon 7 and 8 and, analogously to the PHACTR1 variants found in controls, between 2 different low complexity regions (https://string-db.org/), outside the three RPEL regions or C terminal domain, actin and protein phosphatase 1 (PP1) binding sites, respectively, where all the PHACTR1 pathogenic mutations have been reported in West syndrome and other neurodevelopmental disorders 11,37 (Fig. 3). Here, PHACTR1 is linked to neurodevelopmental disorder.