EAST syndrome

[2] The tubulopathy (renal tubule abnormalities) in this condition predispose to hypokalemic (low potassium) metabolic alkalosis with normal blood pressure.

It is an autosomal recessive genetic disorder caused by mutations in the KCNJ10 gene, as discovered by Bockenhauer and co-workers.

Therefore, through repolarization, a neuron constantly takes up sodium, which causes the membrane potential to decrease because potassium is no longer being taken up intracellularly.

[11] When a person shows signs of sensorineural deafness there is usually muffling of speech, difficulty understanding words, especially against background noise or in a crowd of people.

[12] Sensorineural Deafness indicates that the patient has difficulty hearing not due to environmental factors, but through genetic mutation in the KCNJ10 gene.

[citation needed] Since the main mutation for EAST syndrome is in the KCNJ10 gene, it affects the potassium channels found in the inner ear cells.

This includes the stria vascularis region of the inner ear, which is the upper portion of the fluid filled spiral ligament of the cochlea.

This causes a lack of sound wave translation into neurological signals, which the brain is unable to understand or interpret.

[13] Even though sensorineural deafness is irreversible, one treatment are cochlear implants, which includes a microphone and electronic devices that sit externally to the head.

In contrast to hearing aids, which amplify sound, cochlear implants are designed to stimulate the auditory nerve.

The KCNJ10 is an inwardly rectifying potassium channel which means it is important in the recycling of K+ believed to further be useful in building a gradient for Na+/K+ - ATPase's.

In addition to diminishing Na+/K+ - ATPase's inadequate KCNJ10 functioning leads to depolarization of the basolateral membrane which reduces electrogenic transporters' driving force.