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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Detalhes bibliográficos
Main Authors: Williams, David M., Lopes, Coeli M.B., Rosenhouse-Dantsker, Avia, Connelly, Heather L., Matavel, Alessandra, O-Uchi, Jin, McBeath, Elena, Gray, Daniel A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2010
Assuntos:
Basic Research
Acesso em linha: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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