Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

ABSTRACT:

Background

Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis. We investigated the genetic basis of this autosomal recessive disease, which we call the EAST syndrome (the presence of epilepsy, ataxia, sensorineural deafness, and tubulopathy).

Methods

Whole-genome linkage analysis was performed in the four affected children in one of the families. Newly identified mutations in a potassium-channel gene were evaluated with the use of a heterologous expression system. Protein expression and function were further investigated in genetically modified mice.

Results

Linkage analysis identified a sing

SUBMITTER: Bockenhauer D 

PROVIDER: S-EPMC3398803 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature