KCNJ10 Mutations Disrupt Function in Patients with EAST Syndrome

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

(2011) Dorothy A. Thompson et al.   JOURNAL OF PHYSIOLOGY-LONDON

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

(2011) Sascha Bandulik et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Variable loss of Kir4.1 channel function in SeSAME syndrome mutations

(2010) Xiaofang Tang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Molecular Mechanisms of EAST/SeSAME Syndrome Mutations in Kir4.1 (KCNJ10)

(2010) Monica Sala-Rabanal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular Basis of Decreased Kir4.1 Function in SeSAME/EAST Syndrome

(2010) D. M. Williams et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

(2010) M. Reichold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Potassium Ion Movement in the Inner Ear: Insights from Genetic Disease and Mouse Models

(2009) Anselm A. Zdebik et al.   PHYSIOLOGY

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

(2009) U. I. Scholl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MAGI-1a Functions as a Scaffolding Protein for the Distal Renal Tubular Basolateral K+Channels

(2008) Masayuki Tanemoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functional implications for Kir4.1 channels in glial biology: from K+buffering to cell differentiation

(2008) Michelle L. Olsen et al.   JOURNAL OF NEUROCHEMISTRY

Regulation of magnesium reabsorption in DCT

(2008) Qi Xi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY