Article

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

2021-03-19

Abstract excerpt

<h4>Objective</h4> To compare the frequency and impact on 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. <h4>Methods</h4> We searched for KCNH2 variants with a minor allele frequency of < 5%. Functional analysis in Xenopus la...

Topics

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

Identifiers and source

Literature Corpus work: fc142204-b580-5735-960f-bd9b549e060a
DOI: 10.1101/2021.03.19.436102

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Loss-of-function variants in the cardiac K <sub>v</sub> 11.1 channel as a genetic biomarker for SUDEPDOI 10.1101/2021.03.19.436102Read

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

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

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

Heterozygous variants in <i>KCNC2</i> cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterationsSemantic proximity Read

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

Epilepsy-associated <i>SCN2A</i> (Na <sub>V</sub> 1.2) Variants Exhibit Diverse and Complex Functional PropertiesSemantic proximity Read

Voltage-gated potassium channels and genetic epilepsySemantic proximity Read

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

KCNE genetics and pharmacogenomics in cardiac arrhythmias: much ado about nothing?Semantic proximity Read

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