{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T14:13:05Z","timestamp":1791727985884,"version":"4.3.4"},"reference-count":150,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T00:00:00Z","timestamp":1647302400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Physiol."],"abstract":"<jats:p>In 2009, two groups independently linked human mutations in the inwardly rectifying K<jats:sup>+<\/jats:sup> channel Kir4.1 (gene name <jats:italic>KCNJ10<\/jats:italic>) to a syndrome affecting the central nervous system (CNS), hearing, and renal tubular salt reabsorption. The autosomal recessive syndrome has been named EAST (epilepsy, ataxia, sensorineural deafness, and renal tubulopathy) or SeSAME syndrome (seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance), accordingly. Renal dysfunction in EAST\/SeSAME patients results in loss of Na<jats:sup>+<\/jats:sup>, K<jats:sup>+<\/jats:sup>, and Mg<jats:sup>2+<\/jats:sup> with urine, activation of the renin\u2013angiotensin\u2013aldosterone system, and hypokalemic metabolic alkalosis. Kir4.1 is highly expressed in affected organs: the CNS, inner ear, and kidney. In the kidney, it mostly forms heteromeric channels with Kir5.1 (<jats:italic>KCNJ16<\/jats:italic>). Biallelic loss-of-function mutations of Kir5.1 can also have disease significance, but the clinical symptoms differ substantially from those of EAST\/SeSAME syndrome: although sensorineural hearing loss and hypokalemia are replicated, there is no alkalosis, but rather acidosis of variable severity; in contrast to EAST\/SeSAME syndrome, the CNS is unaffected. This review provides a framework for understanding some of these differences and will guide the reader through the growing literature on Kir4.1 and Kir5.1, discussing the complex disease mechanisms and the variable expression of disease symptoms from a molecular and systems physiology perspective. Knowledge of the pathophysiology of these diseases and their multifaceted clinical spectrum is an important prerequisite for making the correct diagnosis and forms the basis for personalized therapies.<\/jats:p>","DOI":"10.3389\/fphys.2022.852674","type":"journal-article","created":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T14:27:07Z","timestamp":1647354427000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":23,"title":["EAST\/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies"],"prefix":"10.3389","volume":"13","author":[{"given":"Jacky","family":"Lo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Lena","family":"Forst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Warth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anselm A.","family":"Zdebik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,3,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"e1195043","DOI":"10.1080\/21675511.2016.1195043","article-title":"EAST syndrome: clinical, pathophysiological, and genetic aspects of mutations in KCNJ10","volume":"4","author":"Abdelhadi","year":"2016","journal-title":"Rare Dis."},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1449","DOI":"10.1016\/0896-6273(95)90022-5","article-title":"Episodic ataxia results from voltage-dependent potassium channels with altered functions","volume":"15","author":"Adelman","year":"1995","journal-title":"Neuron"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/01677063.2017.1404057","article-title":"Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities","volume":"32","author":"Al Dhaibani","year":"2018","journal-title":"J. Neurogenet."},{"key":"ref4","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1681\/ASN.2019080804","article-title":"Two mineralocorticoid receptor-mediated mechanisms of pendrin activation in distal nephrons","volume":"31","author":"Ayuzawa","year":"2020","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref5","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1007\/s00424-010-0915-0","article-title":"The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K(+) channel","volume":"461","author":"Bandulik","year":"2011","journal-title":"Pflugers Arch."},{"key":"ref6","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1016\/0002-9343(62)90214-0","article-title":"Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome","volume":"33","author":"Bartter","year":"1962","journal-title":"Am. J. Med."},{"key":"ref7","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1126\/science.279.5349.403","article-title":"A potassium channel mutation in neonatal human epilepsy","volume":"279","author":"Biervert","year":"1998","journal-title":"Science"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1016\/j.kint.2019.09.028","article-title":"Defective bicarbonate reabsorption in Kir4.2 potassium channel deficient mice impairs acid-base balance and ammonia excretion","volume":"97","author":"Bignon","year":"2020","journal-title":"Kidney Int."},{"key":"ref9","doi-asserted-by":"publisher","first-page":"1960","DOI":"10.1056\/NEJMoa0810276","article-title":"Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations","volume":"360","author":"Bockenhauer","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"ref10","first-page":"183","article-title":"Cloning and expression of a family of inward rectifier potassium channels","volume":"2","author":"Bond","year":"1994","journal-title":"Recept. Channels"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"627887","DOI":"10.3389\/fncel.2020.627887","article-title":"Megalencephalic Leukoencephalopathy: insights Into pathophysiology and perspectives for therapy","volume":"14","author":"Bosch","year":"2020","journal-title":"Front. Cell. Neurosci."},{"key":"ref12","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1038\/283673a0","article-title":"Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone","volume":"283","author":"Brown","year":"1980","journal-title":"Nature"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"8557","DOI":"10.1038\/ncomms9557","article-title":"Single-cell RNA-Seq resolves cellular complexity in sensory organs from the neonatal inner ear","volume":"6","author":"Burns","year":"2015","journal-title":"Nat. Commun."},{"key":"ref14","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1111\/j.1582-4934.2006.tb00289.x","article-title":"Inwardly rectifying potassium channels (Kir) in central nervous system glia: a special role for Kir4.1 in glial functions","volume":"10","author":"Butt","year":"2006","journal-title":"J. Cell. Mol. Med."},{"key":"ref15","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1111\/cge.13374","article-title":"EAST\/SeSAME syndrome: review of the literature and introduction of four new Latvian patients","volume":"95","author":"Celmina","year":"2019","journal-title":"Clin. Genet."},{"key":"ref16","doi-asserted-by":"publisher","first-page":"13710","DOI":"10.1073\/pnas.2234604100","article-title":"A panoramic view of gene expression in the human kidney","volume":"100","author":"Chabardes-Garonne","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref17","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1681\/ASN.2020101406","article-title":"A comprehensive map of mRNAs and their isoforms across All 14 renal tubule segments of mouse","volume":"32","author":"Chen","year":"2021","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref18","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1002\/jdn.10123","article-title":"Potassium channels and autism spectrum disorder: an overview","volume":"81","author":"Cheng","year":"2021","journal-title":"Int. J. Dev. Neurosci."},{"key":"ref19","doi-asserted-by":"publisher","first-page":"2894","DOI":"10.1073\/pnas.0305252101","article-title":"Disruption of TRPM6\/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia","volume":"101","author":"Chubanov","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref20","doi-asserted-by":"publisher","first-page":"512","DOI":"10.23876\/j.krcp.21.112","article-title":"Hereditary kidney diseases associated with hypomagnesemia","volume":"40","author":"Claverie-Martin","year":"2021","journal-title":"Kidney Res. Clin. Pract."},{"key":"ref21","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1111\/dmcn.12171","article-title":"Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome","volume":"55","author":"Cross","year":"2013","journal-title":"Dev. Med. Child Neurol."},{"key":"ref22","doi-asserted-by":"publisher","first-page":"1814","DOI":"10.1681\/ASN.2016090935","article-title":"Potassium sensing by renal distal tubules requires Kir4.1","volume":"28","author":"Cuevas","year":"2017","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref23","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1074\/jbc.M110.189290","article-title":"Genetic inactivation of Kcnj16 identifies Kir5.1 as an important determinant of neuronal PCO2\/pH sensitivity","volume":"286","author":"D'adamo","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref24","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1152\/physrev.2001.81.1.51","article-title":"Magnesium transport in the renal distal convoluted tubule","volume":"81","author":"Dai","year":"2001","journal-title":"Physiol. Rev."},{"key":"ref25","doi-asserted-by":"publisher","first-page":"11354","DOI":"10.1523\/JNEUROSCI.0723-07.2007","article-title":"Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation","volume":"27","author":"Djukic","year":"2007","journal-title":"J. Neurosci."},{"key":"ref26","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1016\/0959-4388(95)80038-7","article-title":"The inward rectifier p otassium channel family","volume":"5","author":"Doupnik","year":"1995","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref27","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1126\/science.280.5360.69","article-title":"The structure of the potassium channel: molecular basis of K+ conduction and selectivity","volume":"280","author":"Doyle","year":"1998","journal-title":"Science"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"2125","DOI":"10.1681\/ASN.2021010042","article-title":"Molecular mechanisms of renal magnesium reabsorption","volume":"32","author":"Ellison","year":"2021","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref29","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1038\/74159","article-title":"Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2","volume":"24","author":"Escayg","year":"2000","journal-title":"Nat. Genet."},{"key":"ref30","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s004240050251","article-title":"Heterooligomeric assembly of inward-rectifier K+ channels from subunits of different subfamilies: Kir2.1 (IRK1) and Kir4.1 (BIR10)","volume":"433","author":"Fakler","year":"1996","journal-title":"Pflugers Arch."},{"key":"ref31","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/0092-8674(95)90459-X","article-title":"Strong voltage-dependent inward rectification of inward rectifier K+ channels is caused by intracellular spermine","volume":"80","author":"Fakler","year":"1995","journal-title":"Cell"},{"key":"ref32","doi-asserted-by":"publisher","first-page":"e13528","DOI":"10.1111\/apha.13528","article-title":"Mechanisms coupling sodium and magnesium reabsorption in the distal convoluted tubule of the kidney","volume":"231","author":"Franken","year":"2021","journal-title":"Acta Physiol"},{"key":"ref33","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1159\/000330250","article-title":"KCNJ10 mutations disrupt function in patients with EAST syndrome","volume":"119","author":"Freudenthal","year":"2011","journal-title":"Nephron Physiol."},{"key":"ref34","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1111\/jvim.12355","article-title":"A homozygous KCNJ10 mutation in Jack Russell terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both","volume":"28","author":"Gilliam","year":"2014","journal-title":"J. Vet. Intern. Med."},{"key":"ref35","doi-asserted-by":"publisher","first-page":"2087","DOI":"10.1002\/cphy.c110047","article-title":"K(+) channels: function-structural overview","volume":"2","author":"Gonzalez","year":"2012","journal-title":"Compr. Physiol."},{"key":"ref36","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1212\/WNL.0000000000012744","article-title":"Monogenic epilepsies: disease mechanisms, clinical phenotypes, and targeted therapies","volume":"97","author":"Guerrini","year":"2021","journal-title":"Neurology"},{"key":"ref37","doi-asserted-by":"publisher","first-page":"1635","DOI":"10.1002\/glia.21205","article-title":"Evidence that compromised K+ spatial buffering contributes to the epileptogenic effect of mutations in the human Kir4.1 gene (KCNJ10)","volume":"59","author":"Haj-Yasein","year":"2011","journal-title":"Glia"},{"key":"ref38","doi-asserted-by":"publisher","first-page":"2402","DOI":"10.1152\/jn.00284.2017","article-title":"Lethal digenic mutations in the K(+) channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay","volume":"118","author":"Hasan","year":"2017","journal-title":"J. Neurophysiol."},{"key":"ref39","doi-asserted-by":"publisher","first-page":"9215","DOI":"10.1523\/JNEUROSCI.3375-04.2004","article-title":"The beat goes on: spontaneous firing in mammalian neuronal microcircuits","volume":"24","author":"Hausser","year":"2004","journal-title":"J. Neurosci."},{"key":"ref40","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1152\/physrev.00051.2003","article-title":"Molecular diversity and regulation of renal potassium channels","volume":"85","author":"Hebert","year":"2005","journal-title":"Physiol. Rev."},{"key":"ref41","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1097\/NEN.0b013e318267b5af","article-title":"Loss of perivascular Kir4.1 potassium channels in the sclerotic hippocampus of patients with mesial temporal lobe epilepsy","volume":"71","author":"Heuser","year":"2012","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref42","doi-asserted-by":"publisher","first-page":"44065","DOI":"10.1074\/jbc.M405985200","article-title":"Differential assembly of inwardly rectifying K+ channel subunits, Kir4.1 and Kir5.1, in brain astrocytes","volume":"279","author":"Hibino","year":"","journal-title":"J. Biol. Chem."},{"key":"ref43","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1111\/j.1460-9568.2004.03092.x","article-title":"Expression of an inwardly rectifying K+ channel, Kir5.1, in specific types of fibrocytes in the cochlear lateral wall suggests its functional importance in the establishment of endocochlear potential","volume":"19","author":"Hibino","year":"","journal-title":"Eur. J. Neurosci."},{"key":"ref44","doi-asserted-by":"publisher","first-page":"4711","DOI":"10.1523\/JNEUROSCI.17-12-04711.1997","article-title":"An ATP-dependent inwardly rectifying potassium channel, KAB-2 (Kir4. 1), in cochlear stria vascularis of inner ear: its specific subcellular localization and correlation with the formation of endocochlear potential","volume":"17","author":"Hibino","year":"1997","journal-title":"J. Neurosci."},{"key":"ref45","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1152\/physiol.00023.2006","article-title":"Molecular and physiological bases of the K+ circulation in the mammalian inner ear","volume":"21","author":"Hibino","year":"2006","journal-title":"Physiology"},{"key":"ref46","doi-asserted-by":"publisher","first-page":"C922","DOI":"10.1152\/ajpcell.2001.281.3.C922","article-title":"An inwardly rectifying K(+) channel, Kir4.1, expressed in astrocytes surrounds synapses and blood vessels in brain","volume":"281","author":"Higashi","year":"2001","journal-title":"Am. J. Phys. Cell Physiol."},{"key":"ref47","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1126\/science.273.5277.956","article-title":"Regulation of cardiac Na+,Ca2+ exchange and KATP potassium channels by PIP2","volume":"273","author":"Hilgemann","year":"1996","journal-title":"Science"},{"key":"ref48","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1038\/362031a0","article-title":"Cloning and expression of an inwardly rectifying ATP-regulated potassium channel","volume":"362","author":"Ho","year":"1993","journal-title":"Nature"},{"key":"ref49","doi-asserted-by":"publisher","first-page":"12885","DOI":"10.1074\/jbc.272.20.12885","article-title":"Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95\/SAP90","volume":"272","author":"Horio","year":"1997","journal-title":"J. Biol. Chem."},{"key":"ref50","doi-asserted-by":"publisher","first-page":"7725","DOI":"10.1523\/JNEUROSCI.17-20-07725.1997","article-title":"Expression and clustered distribution of an inwardly rectifying potassium channel, KAB-2\/Kir4.1, on mammalian retinal Muller cell membrane: their regulation by insulin and laminin signals","volume":"17","author":"Ishii","year":"1997","journal-title":"J. Neurosci."},{"key":"ref51","doi-asserted-by":"publisher","first-page":"11","DOI":"10.2170\/jjphysiol.47.11","article-title":"Inwardly rectifying potassium channels: their molecular heterogeneity and function","volume":"47","author":"Isomoto","year":"1997","journal-title":"Jpn. J. Physiol."},{"key":"ref52","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/0014-5793(96)00502-9","article-title":"Immunolocalization of an inwardly rectifying K+ channel, K(AB)-2 (Kir4.1), in the basolateral membrane of renal distal tubular epithelia","volume":"388","author":"Ito","year":"1996","journal-title":"FEBS Lett."},{"key":"ref53","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1016\/j.neuron.2011.12.039","article-title":"GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(\u2212) channel auxiliary subunit","volume":"73","author":"Jeworutzki","year":"2012","journal-title":"Neuron"},{"key":"ref54","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"ref55","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1016\/j.neuron.2019.08.042","article-title":"TREK-1 and TRAAK are principal K(+) channels at the nodes of Ranvier for rapid action potential conduction on mammalian Myelinated afferent nerves","volume":"104","author":"Kanda","year":"2019","journal-title":"Neuron"},{"key":"ref56","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1007\/s13760-012-0113-2","article-title":"KCNJ10 gene mutation in an 8-year-old boy with seizures","volume":"113","author":"Kara","year":"2013","journal-title":"Acta Neurol. Belg."},{"key":"ref57","first-page":"285","article-title":"Les constantes \u00e9lectriques de la membrane du muscle","volume":"2","author":"Katz","year":"1949","journal-title":"Arch. Sci. Physiol."},{"key":"ref58","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1124\/mol.118.112359","article-title":"Discovery, characterization, and effects on renal fluid and electrolyte excretion of the Kir4.1 potassium channel pore blocker, VU0134992","volume":"94","author":"Kharade","year":"2018","journal-title":"Mol. Pharmacol."},{"key":"ref59","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1111\/j.1748-1716.1958.tb01563.x","article-title":"The nature of the frog skin potential","volume":"42","author":"Koefoed-Johnsen","year":"1958","journal-title":"Acta Physiol. Scand."},{"key":"ref60","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1002\/glia.10112","article-title":"Kir potassium channel subunit expression in retinal glial cells: implications for spatial potassium buffering","volume":"39","author":"Kofuji","year":"2002","journal-title":"Glia"},{"key":"ref61","doi-asserted-by":"publisher","first-page":"5733","DOI":"10.1523\/JNEUROSCI.20-15-05733.2000","article-title":"Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina","volume":"20","author":"Kofuji","year":"2000","journal-title":"J. Neurosci."},{"key":"ref62","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1016\/S0092-8674(00)80556-5","article-title":"KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness","volume":"96","author":"Kubisch","year":"1999","journal-title":"Cell"},{"key":"ref63","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1152\/jn.1966.29.4.768","article-title":"Physiological properties of glial cells in the central nervous system of amphibia","volume":"29","author":"Kuffler","year":"1966","journal-title":"J. Neurophysiol."},{"key":"ref64","doi-asserted-by":"publisher","first-page":"F1398","DOI":"10.1152\/ajprenal.00288.2007","article-title":"Kir4.1\/Kir5.1 channel forms the major K+ channel in the basolateral membrane of mouse renal collecting duct principal cells","volume":"294","author":"Lachheb","year":"2008","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref65","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1007\/s00414-015-1232-0","article-title":"Polymorphisms in genes of respiratory control and sudden infant death syndrome","volume":"129","author":"Laer","year":"2015","journal-title":"Int. J. Legal Med."},{"key":"ref66","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1536\/ihj.37.651","article-title":"Inward rectifier potassium channels. Cloning, expression and structure-function studies","volume":"37","author":"Lagrutta","year":"1996","journal-title":"Jpn. Heart J."},{"key":"ref67","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1152\/physiolgenomics.00212.2004","article-title":"Identification of the K efflux channel coupled to the gastric H,K ATPase during acid secretion","volume":"21","author":"Lambrecht","year":"2005","journal-title":"Physiol. Genomics"},{"key":"ref68","doi-asserted-by":"publisher","first-page":"2166","DOI":"10.1093\/hmg\/dds032","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations","volume":"21","author":"Lanciotti","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref69","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.ajhg.2017.05.016","article-title":"Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy","volume":"101","author":"Lehman","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref70","doi-asserted-by":"publisher","first-page":"F15","DOI":"10.1152\/ajprenal.1983.245.1.F15","article-title":"Developmental pattern of water and electrolyte transport in rat superficial nephrons","volume":"245","author":"Lelievre-Pegorier","year":"1983","journal-title":"Am. J. Phys."},{"key":"ref71","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1111\/j.1528-1167.2012.03516.x","article-title":"Targeted next generation sequencing as a diagnostic tool in epileptic disorders","volume":"53","author":"Lemke","year":"2012","journal-title":"Epilepsia"},{"key":"ref72","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1002\/1098-1136(20010101)33:1<57::AID-GLIA1006>3.0.CO;2-0","article-title":"Identification of an inward rectifier potassium channel gene expressed in mouse cortical astrocytes","volume":"33","author":"Li","year":"2001","journal-title":"Glia"},{"key":"ref73","doi-asserted-by":"publisher","first-page":"2276","DOI":"10.1097\/01.ASN.0000138234.18569.63","article-title":"Altered renal distal tubule structure and renal Na(+) and Ca(2+) handling in a mouse model for Gitelman's syndrome","volume":"15","author":"Loffing","year":"2004","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref74","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1016\/S0896-6273(02)00725-0","article-title":"Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies","volume":"34","author":"Lopes","year":"2002","journal-title":"Neuron"},{"key":"ref75","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1113\/jphysiol.2001.012961","article-title":"An inward rectifier K+ channel at the basolateral membrane of the mouse distal convoluted tubule: similarities with Kir4-Kir5.1 heteromeric channels","volume":"538","author":"Lourdel","year":"2002","journal-title":"J. Physiol."},{"key":"ref76","doi-asserted-by":"publisher","first-page":"630361","DOI":"10.3389\/fcell.2021.784799","article-title":"Deletion of Kcnj16 in mice does not Alter auditory function","volume":"9","author":"Lv","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"ref77","doi-asserted-by":"publisher","first-page":"F1043","DOI":"10.1152\/ajprenal.00463.2020","article-title":"NaCl cotransporter activity and Mg(2+) handling by the distal convoluted tubule","volume":"319","author":"Maeoka","year":"2020","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref78","doi-asserted-by":"publisher","first-page":"2432","DOI":"10.1523\/JNEUROSCI.1961-12.2013","article-title":"Oligodendrocyte precursor cells are accurate sensors of local K+ in mature gray matter","volume":"33","author":"Maldonado","year":"2013","journal-title":"J. Neurosci."},{"key":"ref79","doi-asserted-by":"publisher","first-page":"C403","DOI":"10.1152\/ajpcell.00312.2001","article-title":"KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential","volume":"282","author":"Marcus","year":"2002","journal-title":"Am. J. Phys. Cell Physiol."},{"key":"ref80","doi-asserted-by":"publisher","first-page":"7716","DOI":"10.1074\/jbc.M115.679910","article-title":"Novel KCNJ10 gene variations compromise function of inwardly rectifying Potassium Channel 4.1","volume":"291","author":"Mendez-Gonzalez","year":"2016","journal-title":"J. Biol. Chem."},{"key":"ref81","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/S0070-2153(05)69004-7","article-title":"The novel roles of glial cells revisited: the contribution of radial glia and astrocytes to neurogenesis","volume":"69","author":"Mori","year":"2005","journal-title":"Curr. Top. Dev. Biol."},{"key":"ref82","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1007\/s10048-020-00605-6","article-title":"Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype","volume":"21","author":"Morin","year":"2020","journal-title":"Neurogenetics"},{"key":"ref83","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1186\/s40246-019-0236-0","article-title":"Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance","volume":"13","author":"Nadella","year":"2019","journal-title":"Hum. Genomics"},{"key":"ref84","doi-asserted-by":"publisher","first-page":"e1000610","DOI":"10.1371\/journal.pgen.1000610","article-title":"A claudin-9-based ion permeability barrier is essential for hearing","volume":"5","author":"Nakano","year":"2009","journal-title":"PLoS Genet."},{"key":"ref85","doi-asserted-by":"publisher","first-page":"14108","DOI":"10.1073\/pnas.241508198","article-title":"Syntrophin-dependent expression and localization of Aquaporin-4 water channel protein","volume":"98","author":"Neely","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref86","article-title":"Genetic variants in central and peripheral chemoreceptor genes in sudden infant death syndrome (SIDS)","volume-title":"Pediatr. Res.","author":"Neubauer","year":"2022"},{"key":"ref87","doi-asserted-by":"publisher","first-page":"5429","DOI":"10.1523\/JNEUROSCI.21-15-05429.2001","article-title":"Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination","volume":"21","author":"Neusch","year":"2001","journal-title":"J. Neurosci."},{"key":"ref88","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1146\/annurev.physiol.59.1.171","article-title":"Inward rectifier potassium channels","volume":"59","author":"Nichols","year":"1997","journal-title":"Annu. Rev. Physiol."},{"key":"ref89","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1007\/s12311-018-0924-7","article-title":"Novel homozygous KCNJ10 mutation in a patient with non-syndromic early-onset cerebellar ataxia","volume":"17","author":"Nicita","year":"2018","journal-title":"Cerebellum"},{"key":"ref90","doi-asserted-by":"publisher","first-page":"1651","DOI":"10.1172\/JCI24134","article-title":"Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia","volume":"115","author":"Nijenhuis","year":"2005","journal-title":"J. Clin. Invest."},{"key":"ref91","doi-asserted-by":"publisher","first-page":"10236","DOI":"10.3390\/ijms221910236","article-title":"Emerging roles of astrocyte Kir4.1 channels in the pathogenesis and treatment of brain diseases","volume":"22","author":"Ohno","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"ref92","doi-asserted-by":"publisher","first-page":"786","DOI":"10.1152\/jn.00340.2007","article-title":"Differential distribution of Kir4.1 in spinal cord astrocytes suggests regional differences in K+ homeostasis","volume":"98","author":"Olsen","year":"2007","journal-title":"J. Neurophysiol."},{"key":"ref93","doi-asserted-by":"publisher","first-page":"788","DOI":"10.1152\/jn.1966.29.4.788","article-title":"Effect of nerve impulses on the membrane potential of glial cells in the central nervous system of amphibia","volume":"29","author":"Orkand","year":"1966","journal-title":"J. Neurophysiol."},{"key":"ref94","doi-asserted-by":"publisher","first-page":"2050313X17723549","DOI":"10.1177\/2050313X17723549","article-title":"Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report","volume":"5","author":"Papavasiliou","year":"2017","journal-title":"SAGE Open Med. Case Rep."},{"key":"ref95","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1159\/000356353","article-title":"KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16","volume":"123","author":"Parrock","year":"2013","journal-title":"Nephron Physiol."},{"key":"ref96","doi-asserted-by":"publisher","first-page":"10361","DOI":"10.1073\/pnas.1101400108","article-title":"Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME\/EAST syndrome","volume":"108","author":"Paulais","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref97","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.1016\/j.kint.2019.12.016","article-title":"Collecting system-specific deletion of Kcnj10 predisposes for thiazide- and low-potassium diet-induced hypokalemia","volume":"97","author":"Penton","year":"2020","journal-title":"Kidney Int."},{"key":"ref98","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1111\/j.1469-7793.2001.0359f.x","article-title":"Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1","volume":"532","author":"Pessia","year":"2001","journal-title":"J. Physiol."},{"key":"ref99","doi-asserted-by":"publisher","first-page":"2980","DOI":"10.1002\/j.1460-2075.1996.tb00661.x","article-title":"Subunit positional effects revealed by novel heteromeric inwardly rectifying K+ channels","volume":"15","author":"Pessia","year":"1996","journal-title":"EMBO J."},{"key":"ref100","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1681\/ASN.2019050551","article-title":"Aldosterone regulates pendrin and epithelial sodium channel activity through intercalated cell mineralocorticoid receptor-dependent and -independent mechanisms over a wide range in serum potassium","volume":"31","author":"Pham","year":"2020","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref101","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1002\/(SICI)1098-1136(200006)30:4<362::AID-GLIA50>3.0.CO;2-4","article-title":"Glial heterogeneity in expression of the inwardly rectifying K(+) channel, Kir4.1, in adult rat CNS","volume":"30","author":"Poopalasundaram","year":"2000","journal-title":"Glia"},{"key":"ref102","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1016\/j.devcel.2019.10.005","article-title":"Single-cell profiling reveals sex, lineage, and regional diversity in the mouse kidney","volume":"51","author":"Ransick","year":"2019","journal-title":"Dev. Cell"},{"key":"ref103","doi-asserted-by":"publisher","first-page":"327","DOI":"10.4161\/chan.5176","article-title":"Control of pH and PIP2 gating in heteromeric Kir4.1\/Kir5.1 channels by H-bonding at the helix-bundle crossing","volume":"1","author":"Rapedius","year":"2007","journal-title":"Channels"},{"key":"ref104","doi-asserted-by":"publisher","first-page":"14490","DOI":"10.1073\/pnas.1003072107","article-title":"KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function","volume":"107","author":"Reichold","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref105","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref106","doi-asserted-by":"publisher","first-page":"2907","DOI":"10.1038\/emboj.2008.203","article-title":"Endocochlear potential depends on Cl\u2212 channels: mechanism underlying deafness in Bartter syndrome IV","volume":"27","author":"Rickheit","year":"2008","journal-title":"EMBO J."},{"key":"ref107","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1056\/NEJMoa032843","article-title":"Salt wasting and deafness resulting from mutations in two chloride channels","volume":"350","author":"Schlingmann","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"ref108","doi-asserted-by":"publisher","first-page":"1498","DOI":"10.1681\/ASN.2020111587","article-title":"Defects in KCNJ16 cause a novel tubulopathy with hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness","volume":"32","author":"Schlingmann","year":"2021","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref109","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1038\/ng889","article-title":"Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family","volume":"31","author":"Schlingmann","year":"2002","journal-title":"Nat. Genet."},{"key":"ref110","doi-asserted-by":"publisher","first-page":"5842","DOI":"10.1073\/pnas.0901749106","article-title":"Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10","volume":"106","author":"Scholl","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref111","doi-asserted-by":"publisher","first-page":"2081","DOI":"10.1007\/s00467-012-2219-4","article-title":"SeSAME\/EAST syndrome-phenotypic variability and delayed activity of the distal convoluted tubule","volume":"27","author":"Scholl","year":"2012","journal-title":"Pediatr. Nephrol."},{"key":"ref112","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1038\/25367","article-title":"Moderate loss of function of cyclic-AMP-modulated KCNQ2\/KCNQ3 K+ channels causes epilepsy","volume":"396","author":"Schroeder","year":"1998","journal-title":"Nature"},{"key":"ref113","doi-asserted-by":"publisher","first-page":"29150","DOI":"10.1074\/jbc.273.44.29150","article-title":"Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+\u2212 Cl\u2212 cotransporter of the distal convoluted tubule","volume":"273","author":"Schultheis","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref114","doi-asserted-by":"publisher","first-page":"10500","DOI":"10.1074\/jbc.M208413200","article-title":"Phosphatidylinositol 4,5-bisphosphate (PIP2) modulation of ATP and pH sensitivity in Kir channels. A tale of an active and a silent PIP2 site in the N terminus","volume":"278","author":"Schulze","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref115","doi-asserted-by":"publisher","first-page":"1419","DOI":"10.1007\/s00415-018-8826-7","article-title":"Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations","volume":"265","author":"Severino","year":"2018","journal-title":"J. Neurol."},{"key":"ref116","doi-asserted-by":"publisher","first-page":"34325","DOI":"10.1038\/srep34325","article-title":"Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy","volume":"6","author":"Sicca","year":"2016","journal-title":"Sci. Rep."},{"key":"ref117","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.nbd.2011.03.016","article-title":"Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1","volume":"43","author":"Sicca","year":"2011","journal-title":"Neurobiol. Dis."},{"key":"ref118","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/ng1096-152","article-title":"Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK","volume":"14","author":"Simon","year":"1996","journal-title":"Nat. Genet."},{"key":"ref119","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1016\/0006-3002(57)90343-8","article-title":"The influence of some cations on an adenosine triphosphatase from peripherial nerves","volume":"23","author":"Skou","year":"1957","journal-title":"Biochim. Biophys. Acta"},{"key":"ref120","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1038\/ki.2013.14","article-title":"Rapid dephosphorylation of the renal sodium chloride cotransporter in response to oral potassium intake in mice","volume":"83","author":"Sorensen","year":"2013","journal-title":"Kidney Int."},{"key":"ref121","doi-asserted-by":"publisher","first-page":"F985","DOI":"10.1152\/ajprenal.00584.2015","article-title":"Disruption of KCNJ10 (Kir4.1) stimulates the expression of ENaC in the collecting duct","volume":"310","author":"Su","year":"2016","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref122","doi-asserted-by":"publisher","first-page":"95","DOI":"10.5582\/irdr.2020.03158","article-title":"A case series of adult patients affected by EAST\/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations","volume":"10","author":"Suzumoto","year":"2021","journal-title":"Intractable Rare. Dis. Res."},{"key":"ref123","doi-asserted-by":"publisher","first-page":"16339","DOI":"10.1074\/jbc.270.27.16339","article-title":"A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells","volume":"270","author":"Takumi","year":"1995","journal-title":"J. Biol. Chem."},{"key":"ref124","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1016\/S0896-6273(02)00675-X","article-title":"PSD-95 mediates formation of a functional homomeric Kir5.1 channel in the brain","volume":"34","author":"Tanemoto","year":"2002","journal-title":"Neuron"},{"key":"ref125","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.cmet.2014.12.006","article-title":"Potassium modulates electrolyte balance and blood pressure through effects on distal cell voltage and chloride","volume":"21","author":"Terker","year":"2015","journal-title":"Cell Metab."},{"key":"ref126","doi-asserted-by":"publisher","first-page":"1681","DOI":"10.1113\/jphysiol.2010.198531","article-title":"Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome","volume":"589","author":"Thompson","year":"2011","journal-title":"J. Physiol."},{"key":"ref127","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1113\/expphysiol.2010.055848","article-title":"Respiratory responses to hypercapnia and hypoxia in mice with genetic ablation of Kir5.1 (Kcnj16)","volume":"96","author":"Trapp","year":"2011","journal-title":"Exp. Physiol."},{"key":"ref128","doi-asserted-by":"publisher","first-page":"16404","DOI":"10.1074\/jbc.C000127200","article-title":"pH dependence of the inwardly rectifying potassium channel, Kir5.1, and localization in renal tubular epithelia","volume":"275","author":"Tucker","year":"2000","journal-title":"J. Biol. Chem."},{"key":"ref129","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1016\/j.nbd.2013.10.015","article-title":"Novel SCN3A variants associated with focal epilepsy in children","volume":"62","author":"Vanoye","year":"2014","journal-title":"Neurobiol. Dis."},{"key":"ref130","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1074\/jbc.M311201200","article-title":"TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption","volume":"279","author":"Voets","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref131","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1159\/000368266","article-title":"Effect of mineralocorticoids on acid-base balance","volume":"128","author":"Wagner","year":"2014","journal-title":"Nephron Physiol."},{"key":"ref132","doi-asserted-by":"publisher","first-page":"5438","DOI":"10.1523\/JNEUROSCI.0037-06.2006","article-title":"The impact of astrocytic gap junctional coupling on potassium buffering in the hippocampus","volume":"26","author":"Wallraff","year":"2006","journal-title":"J. Neurosci."},{"key":"ref133","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1016\/j.kint.2017.10.023","article-title":"Potassium intake modulates the thiazide-sensitive sodium-chloride cotransporter (NCC) activity via the Kir4.1 potassium channel","volume":"93","author":"Wang","year":"2018","journal-title":"Kidney Int."},{"key":"ref134","doi-asserted-by":"publisher","first-page":"7911","DOI":"10.1073\/pnas.1120380109","article-title":"Bergmann glia modulate cerebellar Purkinje cell bistability via Ca2+-dependent K+ uptake","volume":"109","author":"Wang","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref135","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/1741-7015-2-30","article-title":"Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model","volume":"2","author":"Wangemann","year":"2004","journal-title":"BMC Med."},{"key":"ref136","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1007\/s00424-003-1075-2","article-title":"Potassium channels in epithelial transport","volume":"446","author":"Warth","year":"2003","journal-title":"Pflugers Arch."},{"key":"ref137","doi-asserted-by":"publisher","first-page":"C1125","DOI":"10.1152\/ajpcell.00548.2020","article-title":"Next-generation inward rectifier potassium channel modulators: discovery and molecular pharmacology","volume":"320","author":"Weaver","year":"2021","journal-title":"Am. J. Phys. Cell Physiol."},{"key":"ref138","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41431-021-00883-0","article-title":"Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis","volume":"29","author":"Webb","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"ref139","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/S0092-8674(01)00200-8","article-title":"Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29","volume":"104","author":"Wilcox","year":"2001","journal-title":"Cell"},{"key":"ref140","doi-asserted-by":"publisher","first-page":"2117","DOI":"10.1681\/ASN.2009121227","article-title":"Molecular basis of decreased Kir4.1 function in SeSAME\/EAST syndrome","volume":"21","author":"Williams","year":"2010","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref141","doi-asserted-by":"publisher","first-page":"1943","DOI":"10.1093\/hmg\/6.11.1943","article-title":"Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias","volume":"6","author":"Wollnik","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref142","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1681\/ASN.2018080799","article-title":"Kir4.1\/Kir5.1 activity is essential for dietary sodium intake-induced modulation of Na-Cl Cotransporter","volume":"30","author":"Wu","year":"","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref143","doi-asserted-by":"publisher","first-page":"1425","DOI":"10.1681\/ASN.2019010025","article-title":"Deletion of Kir5.1 impairs renal ability to excrete potassium during increased dietary potassium intake","volume":"30","author":"Wu","year":"","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref144","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1016\/j.ajhg.2009.04.014","article-title":"Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome","volume":"84","author":"Yang","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref145","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1152\/physiol.00018.2009","article-title":"Potassium ion movement in the inner ear: insights from genetic disease and mouse models","volume":"24","author":"Zdebik","year":"2009","journal-title":"Physiology (Bethesda)"},{"key":"ref146","doi-asserted-by":"publisher","first-page":"2842","DOI":"10.1523\/JNEUROSCI.18-08-02842.1998","article-title":"Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency","volume":"18","author":"Zerr","year":"1998","journal-title":"J. Neurosci."},{"key":"ref147","doi-asserted-by":"publisher","first-page":"F883","DOI":"10.1152\/ajprenal.00555.2020","article-title":"Deletion of renal Nedd4-2 abolishes the effect of high sodium intake (HS) on Kir4.1, ENaC, and NCC and causes hypokalemia during high HS","volume":"320","author":"Zhang","year":"2021","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref148","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1161\/HYPERTENSIONAHA.118.11070","article-title":"Bradykinin stimulates renal Na(+) and K(+) excretion by inhibiting the K(+) channel (Kir4.1) in the distal convoluted tubule","volume":"72","author":"Zhang","year":"2018","journal-title":"Hypertension"},{"key":"ref149","doi-asserted-by":"publisher","first-page":"F1288","DOI":"10.1152\/ajprenal.00687.2014","article-title":"KCNJ10 (Kir4.1) is expressed in the basolateral membrane of the cortical thick ascending limb","volume":"308","author":"Zhang","year":"2015","journal-title":"Am. J. Physiol. Renal Physiol."},{"key":"ref150","doi-asserted-by":"publisher","first-page":"912","DOI":"10.3389\/fgene.2019.00912","article-title":"Novel KCNJ10 compound heterozygous mutations causing EAST\/SeSAME-like syndrome compromise Potassium Channel function","volume":"10","author":"Zhang","year":"2019","journal-title":"Front. Genet."}],"container-title":["Frontiers in Physiology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fphys.2022.852674\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T14:27:16Z","timestamp":1647354436000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fphys.2022.852674\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,15]]},"references-count":150,"alternative-id":["10.3389\/fphys.2022.852674"],"URL":"https:\/\/doi.org\/10.3389\/fphys.2022.852674","relation":{},"ISSN":["1664-042X"],"issn-type":[{"value":"1664-042X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,15]]},"article-number":"852674"}}