Molecular Characteristics

KCNN3 gene encodes a small-conductance Ca2+-activated K+ channel SK3. All previously identified causative variants that underwent functional studies were gain of function variants. The precise biological mechanism of how channelopathies cause syndromic diseases is unknown. The functional analysis provided by Bauer et al. (2019) suggested that ZLS is associated with increased conductance of the ion channel coded by KCNN3.