The disease spectrum associated with these mutations comprises, to various degrees, autism spectrum disorder (ASD), seizures, autoaggression, muscle hypotonia, hyperactivity, primary aldosteronism, or hyperinsulinism (not all symptoms present in all patients; ref. 20) and is in line with the expression pattern and described physiological roles of Cav1.3 channels (for review, see ref. 17). The gene discussed is CACNA1D; the disease is autism spectrum disorder.