PI4KB and EAST syndrome: In this study, we identified two novel pathogenic variants in KCNJ10 and PI4KB, five rare pathogenic variants in PVRL4, RORC, FLG2, FCRL1, and NIT 1 and one common pathogenic variant in HSPA6 suggesting the importance of membrane lipid signaling, adhesion-mediated cell migration, and protein trafficking in SeSAME syndrome through regulation of Kir channel activity.