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- Q5322531 subject Q6853449.
- Q5322531 subject Q6853484.
- Q5322531 subject Q6902466.
- Q5322531 subject Q7215482.
- Q5322531 abstract "EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems). EAST syndrome is an autosomal recessive genetic disorder caused by mutations in the KCNJ10 gene, as discovered by Bockenhauer and co-workers. A variety of different mutations in KCNJ10 have since been implicated suggesting that the disease results from different spontaneous mutations.The tubulopathy (renal tubule abnormalities) in this condition predispose to hypokalemic (low potassium) metabolic alkalosis with normal blood pressure. Hypomagnesemia (low blood levels of magnesium) may also be present.".
- Q5322531 wikiPageWikiLink Q1048573.
- Q5322531 wikiPageWikiLink Q1053120.
- Q5322531 wikiPageWikiLink Q12133.
- Q5322531 wikiPageWikiLink Q1428362.
- Q5322531 wikiPageWikiLink Q179630.
- Q5322531 wikiPageWikiLink Q18028187.
- Q5322531 wikiPageWikiLink Q1823656.
- Q5322531 wikiPageWikiLink Q200779.
- Q5322531 wikiPageWikiLink Q213373.
- Q5322531 wikiPageWikiLink Q2519137.
- Q5322531 wikiPageWikiLink Q2608695.
- Q5322531 wikiPageWikiLink Q3771629.
- Q5322531 wikiPageWikiLink Q41571.
- Q5322531 wikiPageWikiLink Q6531938.
- Q5322531 wikiPageWikiLink Q6853449.
- Q5322531 wikiPageWikiLink Q6853484.
- Q5322531 wikiPageWikiLink Q6902466.
- Q5322531 wikiPageWikiLink Q7187.
- Q5322531 wikiPageWikiLink Q7215482.
- Q5322531 wikiPageWikiLink Q790971.
- Q5322531 wikiPageWikiLink Q794086.
- Q5322531 wikiPageWikiLink Q82642.
- Q5322531 wikiPageWikiLink Q928697.
- Q5322531 wikiPageWikiLink Q9377.
- Q5322531 comment "EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems). EAST syndrome is an autosomal recessive genetic disorder caused by mutations in the KCNJ10 gene, as discovered by Bockenhauer and co-workers.".
- Q5322531 label "EAST syndrome".