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. © 2011 Springer-Verlag.
CITATION STYLE
Bandulik, S., Schmidt, K., Bockenhauer, D., Zdebik, A. A., Humberg, E., Kleta, R., … Reichold, M. (2011, April). The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. Pflugers Archiv European Journal of Physiology. https://doi.org/10.1007/s00424-010-0915-0
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