“…Recent studies showed that loss-of-function mutations of the human gene ( KCNJ10 ) encoding Kir4.1 channels are responsible for the SeSAME/EAST syndrome, an autosomal recessive disorder characterized by seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance (Bockenhauer et al, 2009; Scholl et al, 2009; Reichold et al, 2010). Genetic variations of KCNJ10 have also been related to epilepsy (Buono et al, 2004; Ferraro et al, 2004; Lenzen et al, 2005; Dai et al, 2015), a group of neurological diseases characterized by seizure disorders. Other diseases associated to Kir4.1 channels include spinocerebellar ataxia (Gilliam et al, 2014), autism (Sicca et al, 2011), Alzheimer disease (Wilcock et al, 2009), and Huntington disease (Tong et al, 2014).…”