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Article

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

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jul 2015

Chen Jing, Zhao Hongbo

Abstract excerpt

Inwardly rectifying potassium (Kir) channels exhibit an asymmetrical conductance at hyperpolarization (high conductance) compared to depolarization (low conductance). The KCNJ10 gene which encodes an inwardly rectifying K+ channel Kir4.1 subunit plays an essential role in the inner ear and hearing. Mutations or deficiency of KCNJ10 can cause hearing loss with epilepsy, ataxia, sensorineural deafness, and renal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26672256

Genes

KCNJ10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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[EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear].PMID 26672256Read ↗

EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.Semantic proximity Read ↗

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

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.Semantic proximity Read ↗

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.Semantic proximity Read ↗

KCNJ10 mutations disrupt function in patients with EAST syndrome.Semantic proximity Read ↗

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

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

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.Semantic proximity Read ↗

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 ↗

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.Semantic proximity Read ↗

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