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Recognizing the molecular basis of an ion channel disease has provided new opportunities for screening, early diagnosis, and therapy of such conditions. This synopsis provides an overview of progress in the identification of molecular defects in inwardly rectifying potassium (Kir) channels. Structurally and functionally distinct from other channel families, Kir channels are ubiquitously expressed and serve functions as diverse as regulation of resting membrane potential, maintenance of K\n                    <jats:sup>+<\/jats:sup>\n                    homeostasis, control of heart rate, and hormone secretion. In humans, persistent hyperinsulinemic hypoglycemia of infancy, a disorder affecting the function of pancreatic \u03b2 cells, and Bartter's syndrome, characterized by hypokalemic alkalosis, hypercalciuria, increased serum aldosterone, and plasma renin activity, are the two major diseases linked so far to mutations in a Kir channel or associated protein. In addition, the weaver phenotype, a neurological disorder in mice, has also been associated with mutations in a Kir channel subtype. Further genetic linkage analysis and full understanding of the consequence that a defect in a Kir channel would have on disease pathogenesis are among the priorities in this emerging field of molecular medicine.\u2014Abraham, M. R., Jahangir, A., Alekseev, A. E., Terzic, A. Channelopathies of inwardly rectifying potassium channels.\n                    <jats:italic>FASEB J<\/jats:italic>\n                    . 13, 1901\u20131910 (1999)\n                  <\/jats:p>","DOI":"10.1096\/fasebj.13.14.1901","type":"journal-article","created":{"date-parts":[[2018,1,25]],"date-time":"2018-01-25T04:39:04Z","timestamp":1516855144000},"page":"1901-1910","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":73,"title":["Channelopathies of inwardly rectifying potassium channels"],"prefix":"10.1096","volume":"13","author":[{"given":"M.","family":"Roselle Abraham","sequence":"first","affiliation":[{"name":"Division of Cardiovascular Diseases Department of Internal Medicine and Pharmacology Mayo Clinic Mayo Foundation  Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arshad","family":"Jahangir","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Diseases Department of Internal Medicine and Pharmacology Mayo Clinic Mayo Foundation  Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey E.","family":"Alekseev","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Diseases Department of Internal Medicine and Pharmacology Mayo Clinic Mayo Foundation  Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Terzic","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Diseases Department of Internal Medicine and Pharmacology Mayo Clinic Mayo Foundation  Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1999,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1995.401"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(96)80010-4"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705293362207"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(97)01370-X"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1712984"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.256.5058.774"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ph.55.030193.003141"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5245.64"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90358-5"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90359-3"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90340-2"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199806113382401"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199810013391404"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.46.1.431"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.9.4759"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(97)00046-1"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0028-3908(97)00029-4"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200206"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.1997.267bb.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.59.1.171"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0959-4388(95)80038-7"},{"key":"e_1_2_5_23_1","first-page":"285","article-title":"Les constantes electriques de la membrane du muscle","volume":"2","author":"Katz B.","year":"1949","journal-title":"Arch. 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