Whole exome sequencing and genetic association studies have uncovered a link between bipolar disorder and loss-of-function polymorphisms and mutations in human CAMKK2. A rare, heterozygous, de novo mutation (rs130790572; 3.98 × 10-6 minor allele frequency) that results in a single amino acid change (R311C) in CaMKK2 was identified from a comparative whole exome sequencing study of patients with bipolar 1 disorder and their unaffected parents [143]. This evidence concerns the gene CAMKK2 and bipolar disorder.