This is the second mutation in KCNJ2 detected in a patient showing autism and SQT3 syndrome: the previously reported mutation (p.Lys346Thr) was detected in monozygotic twins and functional studies revealed an increase of the channel current amplitude due to an increase of its surface expression stability at the plasma-membrane, a reduction in protein degradation and altered protein compartmentalization (Ambrosini et al., 2014). The gene discussed is KCNJ2; the disease is autism.