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Article

Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.

Journal of the American Society of Nephrology : JASN - 1 Dec 2010

Williams David M, Lopes Coeli M B, Rosenhouse-Dantsker Avia, Connelly Heather L, Matavel Alessandra, O-Uchi Jin, McBeath Elena, Gray Daniel A

Abstract excerpt

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 cha...

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Source

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Identifiers

PMID: 21088294
DOI: 10.1681/ASN.2009121227
PMCID: PMC3014025

Genes

KCNJ10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21088294-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.PMID 21088294Read ↗

Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).Semantic proximity Read ↗

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Variable loss of Kir4.1 channel function in SeSAME syndrome mutations.Semantic proximity Read ↗

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.Semantic proximity Read ↗

Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome.Semantic proximity Read ↗

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel functionSemantic proximity Read ↗

[EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear].Semantic proximity Read ↗

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Identification and functional characterization of two novel mutations in <i>KCNJ10</i> and <i>PI4KB</i> in SeSAME syndrome without electrolyte imbalanceSemantic proximity Read ↗

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.Semantic proximity Read ↗

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Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.Semantic proximity Read ↗

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