Discover Community Create You

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

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

Neurogenetics - 1 Apr 2020

Morin Matias, Forst Anna-Lena, Pérez-Torre Paula, Jiménez-Escrig Adriano, Barca-Tierno Verónica, García-Galloway Eva, Warth Richard, Lopez-Sendón Moreno Jose Luis, Moreno-Pelayo Miguel Angel

Abstract excerpt

KCNJ10 encodes the inward-rectifying potassium channel (Kir4.1) that is expressed in the brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex syndrome consisting of epilepsy, ataxia, intellectual disability, sensorineural deafness, and tubulopathy (EAST/SeSAME syndrome). Patients with EAST/SeSAME syndrome display renal salt wasting and electrolyte imbalance that resemble the...

Read the complete abstract on PubMed

Topics

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

Share to CHO Cells
Share to Cricetulus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to High-Throughput Nucleotide Sequencing

Share to Intellectual Disability

Share to Mutation, Missense

Share to Potassium Channels, Inwardly Rectifying

Share to Seizures

Source

Identifiers

PMID: 32062759
DOI: 10.1007/s10048-020-00605-6

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.PMID 32062759Read ↗

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

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

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.Semantic proximity Read ↗

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

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

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

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

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.Semantic proximity Read ↗

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

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

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