Patient with Syncope and LQTS Carrying a Mutation in the PAS Domain of the hERG1 Channel

We report the case of a woman with syncope and persistently prolonged QTc interval. Screening of congenital long QT syndrome (LQTS) genes revealed that she was a heterozygous carrier of a novel KCNH2 mutation, c.G238C. Electrophysiological and biochemical characterizations unveiled the pathogenicity...

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Bibliografiske detaljer
Udgivet i:Ann Noninvasive Electrocardiol
Main Authors: Grilo, Liliana Sintra, Schläpfer, Jürg, Fellmann, Florence, Abriel, Hugues
Format: Artigo
Sprog:Inglês
Udgivet: Blackwell Publishing Inc 2011
Fag:
Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6932128/
https://ncbi.nlm.nih.gov/pubmed/21496174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1542-474X.2011.00419.x
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