Journal
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Volume 461, Issue 4, Pages 423-435Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00424-010-0915-0
Keywords
Kir4.1; Salt-losing syndrome; Distal convoluted tubule; Channelopathy; Potassium channel; Kidney; K channel; Transport; Epilepsy
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Funding
- Deutsche Forschungsgemeinschaft [SFB699]
- Great Ormond Street Hospital
- Great Ormond Street Hospital Childrens Charity [V0901] Funding Source: researchfish
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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 saltwasting 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.
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