A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

Abstract Background and aims Mutations in KCNH2 cause long or short QT syndromes (LQTS or SQTS) predisposing to life‐threatening arrhythmias. Over 1000 hERG variants have been described by clinicians, but most remain to be characterised. The objective is to standardise and accelerate the phenotyping...

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Autores principales: Barbara Oliveira‐Mendes, Sylvain Feliciangeli, Mélissa Ménard, Frank Chatelain, Malak Alameh, Jérôme Montnach, Sébastien Nicolas, Béatrice Ollivier, Julien Barc, Isabelle Baró, Jean‐Jacques Schott, Vincent Probst, Florence Kyndt, Isabelle Denjoy, Florian Lesage, Gildas Loussouarn, Michel De Waard
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
arrhythmias
diagnostic testing
genetic variant
hERG ion channel
pathogenicity
QT syndrome
Medicine (General)
R5-920
Acceso en línea:https://doaj.org/article/acbf1713166b446c8093329363ed25ac
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https://doaj.org/article/acbf1713166b446c8093329363ed25ac

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