Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano–Ward Syndrome: Functional Characterization by Mutant Co-expression

Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano–Ward Syndrome: Functional Characterization by Mutant Co-expression

Next Generation Sequencing has identified many KCNQ1 genetic variants associated with type 1 long QT or Romano-Ward syndrome, most frequently inherited in an autosomal dominant fashion, although recessive forms have been reported. Particularly in the case of missense variants, functional studies of...

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Bibliographic Details
Main Authors: Antonia González-Garrido, Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Omar López-Ramírez, José Guadalupe Guevara-Chávez, Oscar Zepeda-García, Pedro Iturralde, Alessandra Carnevale, Teresa Villarreal-Molina
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
KCNQ1
long-QT syndrome
IKs
electrophysiology
A300T
P535T
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2021.625449/full

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https://www.frontiersin.org/articles/10.3389/fcvm.2021.625449/full

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