Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

KCNJ10 mutations disrupt function in patients with EAST syndrome.

Nephron. Physiology - 1 Jan 2011

Freudenthal Bernard, Kulaveerasingam Duvaraka, Lingappa Lokesh, Shah Mehul A, Brueton Louise, Wassmer Evangeline, Ognjanovic Milos, Dorison Nathalie, Reichold Markus, Bockenhauer Detlef, Kleta Robert, Zdebik Anselm A

Abstract excerpt

BACKGROUND/AIMS: Mutations in the inwardly-rectifying K+ channel KCNJ10/Kir4.1 cause an autosomal recessive disorder characterized by epilepsy, ataxia, sensorineural deafness and tubulopathy (EAST syndrome). KCNJ10 is expressed in the kidney distal convoluted tubule, cochlear stria vascularis and brain glial cells. Patients clinically diagnosed with EAST syndrome were genotyped to identify and study mutations in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hearing Loss, Sensorineural
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Tubules, Distal

Share to Oocytes

Share to Patch-Clamp Techniques

Share to Potassium Channels, Inwardly Rectifying

Share to Seizures

Share to Xenopus laevis

Source

Identifiers

PMID: 21849804
DOI: 10.1159/000330250

Genes

KCNJ10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

KCNJ10 mutations disrupt function in patients with EAST syndrome.PMID 21849804Read ↗

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.Semantic proximity Read ↗

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 ↗

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

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

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

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

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

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.