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EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

Abdelhadi, O; Iancu, D; Stanescu, H; Kleta, R; Bockenhauer, D; (2016) EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Rare Diseases , 4 (1) , Article e1195043. 10.1080/21675511.2016.1195043. Green open access

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Abstract

EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a renal salt-wasting) Tubulopathy, hence the acronym EAST syndrome. Here we review reported clinical manifestations, in particular the neurological signs and symptoms which typically have the most impact on the quality of life of patients. In addition we review the pathophysiology and genetic aspects of the disease. So far 14 different KCNJ10 mutations have been published which either directly affect channel function or may lead to mislocalisation. Investigations of the pathophysiology may provide clues to potential treatments.

Type: Article
Title: EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/21675511.2016.1195043
Publisher version: http://dx.doi.org/10.1080/21675511.2016.1195043
Language: English
Additional information: Copyright © 2016 Ola Abdelhadi, Daniela Iancu, Horia Stanescu, Robert Kleta, and Detlef Bockenhauer. Published with license by Taylor & Francis. This is an Open Access article distributed under the terms of the Creative Commons Attribution-Non-Commercial License (http://creativecommons.o rg/licenses/by-nc/3.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. The moral rights of the named author(s) have been asserted.
Keywords: EAST syndrome, KCNJ10, Kir4.1, SeSAME syndrome, ataxia, epilepsy, kidney, potassium channel, tubulopathy
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1508924
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