EAST syndrome

Also known as: epilepsy, ataxia, sensorineural deafness and tubulopathy; SeSAME syndrome

Epilepsy, ataxia, sensorineural deafness and tubulopathy with hypokalemic alkalosis and hypomagnesemia.

Medical specialty: Nephrology
Subspecialty: Nephrology / Tubular disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: KCNJ10

Etiology & mechanism

Loss of the inward rectifier potassium channel Kir4.1 in brain, inner ear and distal tubule.

Gene(s) involved (1)

KCNJ10

Symptoms & signs (9)

ataxiahypokalemiahypomagnesemiaintellectual disabilitymetabolic alkalosismuscle weaknesssalt wastingseizuressensorineural deafness

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.