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   Articles with "kcnh2" as a keyword



High-throughput phenotyping of heteromeric human ether-à-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants.

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recommendations! Published in 2019 at "Heart rhythm"

DOI: 10.1016/j.hrthm.2019.09.020

Abstract: BACKGROUND KCNH2 encodes the human ether-à-go-go-related gene (hERG) potassium channel, which passes the rapid delayed rectifier potassium current, IKr. Loss-of-function variants in KCNH2 cause long QT syndrome type 2 (LQTS2) which is associated with a… read more here.

Keywords: kcnh2; potassium; benign variants; kcnh2 variants ... See more keywords

Bradycardia in a long QT type 2 family: coinciding KCNH2 and HCN4 variants

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recommendations! Published in 2024 at "Cardiovascular Research"

DOI: 10.1093/cvr/cvae088.104

Abstract: Type of funding sources: Public grant(s) – National budget only. Main funding source(s): the Dutch Research Council: NWO Talent Scheme A large multigenerational family harboring a pathogenic KCNH2 variant (L69P) was identified. This gene encodes… read more here.

Keywords: l69p; family; variant; kcnh2 ... See more keywords

Atenolol rescues premature mortality in genetic mouse models of sudden unexpected death in epilepsy.

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recommendations! Published in 2025 at "Epilepsia"

DOI: 10.1111/epi.18642

Abstract: OBJECTIVE Sudden unexpected death in epilepsy (SUDEP) is the leading cause of premature mortality in epilepsy. Genetic studies have identified that loss-of-function (LOF) KCNH2 variants are enriched in SUDEP patients, suggesting that they may act… read more here.

Keywords: mice; mortality; epilepsy; kcnh2 ... See more keywords

Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes

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recommendations! Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23137389

Abstract: The electrocardiogram (ECG) empowered clinician scientists to measure the electrical activity of the heart noninvasively to identify arrhythmias and heart disease. Shortly after the standardization of the 12-lead ECG for the diagnosis of heart disease,… read more here.

Keywords: specific differences; channel dysfunction; mutation specific; long syndrome ... See more keywords