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

1 Jan 2016

Abstract excerpt

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...

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PMID: 27500072
DOI: 10.1080/21675511.2016.1195043

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