<i>KCNH2</i> p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort

<i>KCNH2</i> p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort

Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated with susceptibility to ventricular arrhythmias due to malfunction of ion channels in cardiomyocytes, that could lead to sudden death (SD). Most pathogenic variants are in the main 3 genes: <i>KCNQ1 (LQT1)<...

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Bibliographic Details
Main Authors: Rebeca Lorca, Alejandro Junco-Vicente, Alicia Pérez-Pérez, Isaac Pascual, Yvan Rafael Persia-Paulino, Francisco González-Urbistondo, Elías Cuesta-Llavona, Bárbara C. Fernández-Barrio, César Morís, José Manuel Rubín, Eliecer Coto, Juan Gómez, José Julián Rodríguez Reguero
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Life
Subjects:
long QT syndrome
<i>KCNH2</i> gene
inheritable arrhythmogenic disorder
genetic testing
Online Access:https://www.mdpi.com/2075-1729/12/4/556

Internet

https://www.mdpi.com/2075-1729/12/4/556

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