Neurology Medical News about epilepsy;KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations
New England Journal of Medicine, 05/08/09

Detlef B et al. – Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy. Findings show that the KCNJ10 gene, which encodes a potassium channel expressed in the brain, inner ear, and kidney, plays a major role in renal salt handling and thus possibly in blood-pressure maintenance and its regulation as well.

Methods

Study of the genetic basis of EAST syndrome (an autosomal recessive disease): presence of epilepsy, ataxia, sensorineural deafness, and tubulopathy
Subjects: 5 children from 2 consanguineous families with epilepsy in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis
Whole-genome linkage analysis in 4 affected children in 1 family
Evaluation of newly identified mutations in a potassium-channel gene by use of a heterologous expression system
Assessment of protein expression and function in genetically modified mice
Sequencing of the candidate gene

Results

Linkage analysis identified a single significant locus on chromosome 1q23.2 with lod score of 4.98
This region contained the KCNJ10 gene
Gene sequencing showed homozygous missense mutations in affected persons in both families
These mutations, when expressed heterologously in xenopus oocytes, caused significant and specific decreases in potassium currents
Mice with Kcnj10 deletions became dehydrated, with definitive evidence of renal salt wasting

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