Article

KCNJ16 associated Hypokalaemic Tubulopathy and Deafness presenting with Sudden Cardiac Arrest.

2023-09-26

Abstract excerpt

<title>Abstract</title> <p>Inwardly rectifying potassium channels (K<sub>ir</sub>) allow potassium (K+) to easily move into cells. They are implicated in several diverse physiological processes throughout the body. KCNJ16 associated tubulopathy and deafness affects a subset of K<sub>ir</sub> transport channels. This disease was first described in 2021, amongst a cohort of 9 patients in total. Sudden cardiac arres...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7a4b4108-7de7-541b-92a6-5d277206485b
DOI: 10.21203/rs.3.rs-3366658/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

KCNJ16 associated Hypokalaemic Tubulopathy and Deafness presenting with Sudden Cardiac Arrest.DOI 10.21203/rs.3.rs-3366658/v1Read

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

Type, location and zygosity of <i>KCNJ16</i> mutations may determine the clinical severity of Hypokalemic Tubulopathy and Deafness (HkTD)Semantic proximity Read

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus StatementSemantic proximity Read

Exploring single nucleotide polymorphisms in the KCNQ1 gene associated with cardiac disordersSemantic proximity Read

Inwardly Rectifying Potassium Channel Kir2.1 and its “Kir-ious” Regulation by Protein Trafficking and Roles in Development and DiseaseSemantic proximity Read

CACNA1C-Related Channelopathies.Semantic proximity Read

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.Semantic proximity Read

Human KATP channelopathies: diseases of metabolic homeostasisSemantic proximity Read

Disease Associated Mutations in KIR Proteins Linked to Aberrant Inward Rectifier Channel Trafficking.Semantic proximity Read

Diseases caused by voltage-gated ion channels.Semantic proximity Read

Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.Semantic proximity Read

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