Key result
EAST syndrome is an autosomal recessive disorder caused by KCNJ10 mutations, characterized by epilepsy, ataxia, sensorineural deafness, and tubulopathy, with 14 different mutations reported to date.
This review summarizes the clinical, pathophysiological, and genetic aspects of EAST syndrome, highlighting 14 known KCNJ10 mutations.
EAST syndrome warrants KCNJ10 testing in compatible phenotypes; leaves open genotype-phenotype correlations and targeted therapies.
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.
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Abdelhadi et al. (2016) conducted a review in EAST syndrome (KCNJ10 mutations). KCNJ10 mutations was evaluated. EAST syndrome is an autosomal recessive disorder caused by KCNJ10 mutations, characterized by epilepsy, ataxia, sensorineural deafness, and tubulopathy, with 14 different mutations reported to date.
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