Article
KCNQ1 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.
International journal of molecular sciences - 12 Jan 2024
González-Garrido Antonia, López-Ramírez Omar, Cerda-Mireles Abel, Navarrete-Miranda Thania, Flores-Arenas Aranza Iztanami, Rojo-Domínguez Arturo, Arregui Leticia, Iturralde Pedro, Antúnez-Argüelles Erika, Domínguez-Pérez Mayra, Jacobo-Albavera Leonor, Carnevale Alessandra, Villarreal-Molina Teresa
Abstract excerpt
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 KCNQ1/p.D446E variant in 2/63 patients with long QT syndrome, 30-fold more frequent than in public databases. We thus...
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