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Article

Variable loss of Kir4.1 channel function in SeSAME syndrome mutations.

Biochemical and biophysical research communications - 3 Sept 2010

Tang Xiaofang, Hang Darwin, Sand Andrea, Kofuji Paulo

Abstract excerpt

SeSAME syndrome is a complex disease characterized by seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance. Mutations in the inwardly rectifying potassium channel Kir4.1 (KCNJ10 gene) have been linked to this condition. Kir4.1 channels are weakly rectifying channels expressed in glia, kidney, cochlea and possibly other tissues. We determined the electrophysiological properties of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20678478
DOI: 10.1016/j.bbrc.2010.07.105
PMCID: PMC2940129

Genes

KCNJ10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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