Mutations in ATP8A2 and ATP11A have been reported to cause severe neurological disorders (Onat et al., 2013; Segawa et al., 2021), and mutations in ATP8B1 are associated with intrahepatic cholestatic disorders, such as benign recurrent intrahepatic cholestasis (BRIC1), intrahepatic cholestasis of pregnancy (ICP1), and the more severe progressive familial intrahepatic cholestasis type 1 (PFIC1). Here, ATP8B1 is linked to progressive familial intrahepatic cholestasis type 1.