In particular, mutations in ATP6V1A, encoding V1A subunit, can promote developmental and epileptic encephalopathy (DEE) and its downregulation was associated with late-onset Alzheimer’s disease (AD), while mutations in ATP6V1B2, encoding the V1B subunit, mediate DEE, deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizure (DOORS) syndrome, and Zimmermann Laband Syndrome (ZLS) (Figure 1). Here, ATP6V1B2 is linked to Zimmermann-Laband syndrome.