title: The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.
abstract: Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by epilepsy, ataxia, sensorineural deafness, and a salt-wasting tubulopathy. The renal salt-wasting pathology of EAST syndrome is caused by transport defects in the distal convoluted tubule where KCNJ10 plays a pivotal role as a basolateral K+ channel. This review on EAST syndrome outlines the molecular aspects of the physiology and pathophysiology of KCNJ10 in the distal convoluted tubule.
authors.affiliation: Medical Cell Biology, University of Regensburg, Regensburg, Germany.
authors.forename: Sascha
authors.initials: S
authors.lastname: Bandulik
authors.forename: Katharina
authors.initials: K
authors.lastname: Schmidt
authors.forename: Detlef
authors.initials: D
authors.lastname: Bockenhauer
authors.forename: Anselm A
authors.initials: AA
authors.lastname: Zdebik
authors.forename: Evelyn
authors.initials: E
authors.lastname: Humberg
authors.forename: Robert
authors.initials: R
authors.lastname: Kleta
authors.forename: Richard
authors.initials: R
authors.lastname: Warth
authors.forename: Markus
authors.initials: M
authors.lastname: Reichold
mesh_terms: D001259:Ataxia / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000503:physiopathology; D007686:Kidney Tubules, Distal / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics* / Q000502:physiology; D012492:Salts / Q000378:metabolism*; D013577:Syndrome; D000098854:Kcnj10 Channel
chemical_list: D000098854:Kcnj10 Channel; D024661:Potassium Channels, Inwardly Rectifying; D012492:Salts