Exploring the role of KCNN2 in dominant neurodevelopmental movement disorders


  • KCNN2 genetic variants were associated with novel dominant channelopathies characterized by developmental delay, intellectual disability and movement disorders.

Why this matters

    An association between mutations of the KCNN2-encoded small conductance calcium-activated potassium channel 2 (SK2) and neurodevelopmental movement disorders has only been definitively demonstrated in rodent models.