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Abdelhadi O, Iancu D, Stanescu H, et al. EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Rare Dis. 2016;4(1):e1195043doi: 10.1080/21675511.2016.1195043.
Abdelhadi, O., Iancu, D., Stanescu, H., Kleta, R., & Bockenhauer, D. (2016). EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Rare diseases (Austin, Tex.), 4(1), e1195043. https://doi.org/10.1080/21675511.2016.1195043
Abdelhadi, Ola, et al. "EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10." Rare diseases (Austin, Tex.) vol. 4,1 (2016): e1195043. doi: https://doi.org/10.1080/21675511.2016.1195043
Abdelhadi O, Iancu D, Stanescu H, Kleta R, Bockenhauer D. EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Rare Dis. 2016 Jun 01;4(1):e1195043. doi: 10.1080/21675511.2016.1195043. eCollection 2016. PMID: 27500072; PMCID: PMC4961265.
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Rare Dis. 2016 Jun 01;4(1):e1195043. doi: 10.1080/21675511.2016.1195043. eCollection 2016.

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

Rare diseases (Austin, Tex.)

Ola Abdelhadi, Daniela Iancu, Horia Stanescu, Robert Kleta, Detlef Bockenhauer

Affiliations

  1. Center for Nephrology, University College London , London, UK.

PMID: 27500072 PMCID: PMC4961265 DOI: 10.1080/21675511.2016.1195043

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.

Keywords: EAST syndrome; KCNJ10; Kir4.1; SeSAME syndrome; ataxia; epilepsy; kidney; potassium channel; tubulopathy

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