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Article

Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).

The Journal of biological chemistry - 12 Nov 2010

Sala-Rabanal Monica, Kucheryavykh Lilia Y, Skatchkov Serguei N, Eaton Misty J, Nichols Colin G

Abstract excerpt

Inwardly rectifying potassium channel Kir4.1 is critical for glial function, control of neuronal excitability, and systemic K(+) homeostasis. Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by mental retardation, ataxia, seizures, hearing loss, and renal salt waste. Patients are homozygous for R65P, G77R, C140R or T164I; or compound heterozygous for A167V/R297C or...

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Source

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Identifiers

PMID: 20807765
DOI: 10.1074/jbc.M110.163170
PMCID: PMC2975226

Genes

KCNJ10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).PMID 20807765Read ↗

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

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10Semantic 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 ↗

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

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