In addition, gain of function mechanism of PAK1 variant was also supported that knockout of either PAK1 or PAK3 in mice results in no obvious abnormalities [31]. In addition, a previous study [32] present a patient with neurodevelopmental disorder, seizures, and macrocephaly caused by a de novo p.Ser110Thr missense variant in PAK1 gene, indicating the important role of PAK1 in controlling postnatal brain development and volume. Here, PAK1 is linked to neurodevelopmental disorder.