<i>KCNQ1</i> p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation

<i>KCNQ1</i> p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation

Genetic testing is crucial in inherited arrhythmogenic channelopathies; however, the clinical interpretation of genetic variants remains challenging. Incomplete penetrance, oligogenic, polygenic or multifactorial forms of channelopathies further complicate variant interpretation. We identified the &...

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Bibliographic Details
Main Authors: Antonia González-Garrido, Omar López-Ramírez, Abel Cerda-Mireles, Thania Navarrete-Miranda, Aranza Iztanami Flores-Arenas, Arturo Rojo-Domínguez, Leticia Arregui, Pedro Iturralde, Erika Antúnez-Argüelles, Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Alessandra Carnevale, Teresa Villarreal-Molina
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:International Journal of Molecular Sciences
Subjects:
<i>KCNQ1</i>
p.D446E
low-frequency polymorphism
long QT syndrome
early repolarization
loss of function
Online Access:https://www.mdpi.com/1422-0067/25/2/953

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https://www.mdpi.com/1422-0067/25/2/953

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