Another cohort of patients displayed instead a gain-of-function mutation in KCNJ10 affecting the N-terminus and the first transmembrane region of the channel: this variation caused an increase in Kir4.1 surface expression or conductance and patients developed seizures in association with autism spectrum disorders and impaired cognitive abilities (Sicca et al., 2011). Here, KCNJ10 is linked to autism spectrum disorder.