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Molecular Basis of Decreased Kir4.1 Function in SeSAME/EAST Syndrome
SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, sensorineural deafness, ataxia, and developmental abnormalities. This disease links to autosomal recessive mutations in KCNJ10, which encodes the Kir4.1 potassium channe...
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| Auteurs principaux: | , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Society of Nephrology
2010
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3014025/ https://ncbi.nlm.nih.gov/pubmed/21088294 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2009121227 |
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