brain functions. Consistent with this view, a missense mutation of Kcnj6 altering the pore-forming domain of the potassium channel is responsible for the ‘weaver’ phenotype, characterized by abnormal development of the cerebellum (Patil et al., 1995). In addition, a heterozygous deletion of three nucleotides or a missense mutation introducing a single amino acid change from glycine to serine in Kir3.2 subunit causes the Keppen-Lubinsky syndrome, a rare genetic disorder characterized by severe developmental delay, intellectual disability, and microcephaly (Basel-Vanagaite et al., 2009; Masotti et al., 2015).
