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The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

Bandulik, S; Schmidt, K; Bockenhauer, D; Zdebik, AA; Humberg, E; Kleta, R; Warth, R; (2011) The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. PFLUG ARCH EUR J PHY , 461 (4) 423 - 435. 10.1007/s00424-010-0915-0.

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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 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.

Type: Article
Title: The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel
DOI: 10.1007/s00424-010-0915-0
Keywords: Kir4.1, Salt-losing syndrome, Distal convoluted tubule, Channelopathy, Potassium channel, Kidney, K channel, Transport, Epilepsy, DISTAL CONVOLUTED TUBULE, NA+,K+-ATPASE GAMMA-SUBUNIT, CALCIUM-SENSING RECEPTOR, ROMK POTASSIUM CHANNEL, CENTRAL-NERVOUS-SYSTEM, RENAL MAGNESIUM LOSS, BARTTERS-SYNDROME, SECONDARY HYPOCALCEMIA, SENSORINEURAL DEAFNESS, BASOLATERAL MEMBRANE
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of) > Clinical Physiology
URI: http://discovery.ucl.ac.uk/id/eprint/705694
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