title: EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.
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.
authors: Center for Nephrology, University College London , London, UK.
authors: Ola
authors: O
authors: Abdelhadi
authors: Center for Nephrology, University College London , London, UK.
authors: Daniela
authors: D
authors: Iancu
authors: Center for Nephrology, University College London , London, UK.
authors: Horia
authors: H
authors: Stanescu
authors: Center for Nephrology, University College London , London, UK.
authors: Robert
authors: R
authors: Kleta
authors: Center for Nephrology, University College London , London, UK.
authors: Detlef
authors: D
authors: Bockenhauer
keywords: EAST syndrome; KCNJ10; Kir4.1; SeSAME syndrome; ataxia; epilepsy; kidney; potassium channel; tubulopathy