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

Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.

Annals of clinical and translational neurology - 1 Jul 2021

Soh Ming S, Bagnall Richard D, Bennett Mark F, Bleakley Lauren E, Mohamed Syazwan Erlina S, Phillips A Marie, Chiam Mathew D F, McKenzie Chaseley E, Hildebrand Michael, Crompton Douglas, Bahlo Melanie, Semsarian Christopher, Scheffer Ingrid E, Berkovic Samuel F, Reid Christopher A

Abstract excerpt

OBJECTIVE: To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss-of-function KCNH2 variants as predictive biomarkers of SUDEP risk. METHODS: We searched for KCNH2 variants with a minor allele frequency of <5%. Functional analysis in Xenopus laevis oocytes was...

Read the complete abstract on PubMed

Topics

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

Share to Young Adult
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Biomarkers

Share to Cohort Studies

Share to Epilepsy

Share to ERG1 Potassium Channel

Share to Infant

Share to Xenopus laevis

Source

Open in PubMed Open full text

Identifiers

PMID: 34002542
DOI: 10.1002/acn3.51381
PMCID: PMC8283159

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.PMID 34002542Read ↗

Loss-of-function variants in the cardiac K <sub>v</sub> 11.1 channel as a genetic biomarker for SUDEPSemantic proximity Read ↗

The Role of Loss-of-Function KCNH2 Variants in Cardiac Arrhythmias, Seizures and the Risk of Sudden Unexpected Death in Epilepsy.Semantic proximity Read ↗

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.Semantic proximity Read ↗

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.Semantic proximity Read ↗

Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels.Semantic proximity Read ↗

Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsySemantic proximity Read ↗

Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP).Semantic proximity Read ↗

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.Semantic proximity Read ↗

Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.Semantic proximity Read ↗

Voltage-gated potassium channels and genetic epilepsySemantic proximity Read ↗

Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders.Semantic proximity Read ↗

Sudden Death-Associated <i>KCNH2</i> Variants Have Opposing Effects on hERG1 <sub>NP</sub> FunctionSemantic proximity Read ↗

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