ATP13A2 and dentin dysplasia: In the current study, we identified a homozygous missense variant in the ATP13A2 gene, specifically c.1208 C > A, p.Ala403Glu, in a family displaying a range of symptoms, including ASM-resistant epilepsy, ID, DD, PD, deafness, drooling, speech impediments, hypotonia, and a weak cry.