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Article

Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results.

Clinical research in cardiology : official journal of the German Cardiac Society - 1 Aug 2018

Chua Han Chow, Servatius Helge, Asatryan Babken, Schaller André, Rieubland Claudine, Noti Fabian, Seiler Jens, Roten Laurent, Baldinger Samuel H, Tanner Hildegard, Fuhrer Juerg, Haeberlin Andreas, Lam Anna, Pless Stephan A, Medeiros-Domingo Argelia

Abstract excerpt

OBJECTIVE: Unexplained cardiac arrest (UCA) is often the first manifestation of an inherited arrhythmogenic disease. Genetic testing in UCA is challenging due to the complexities of variant interpretation in the absence of supporting cardiac phenotype. We aimed to investigate if a KCNQ1 variant [p.(Pro64_Pro70del)], previously reported as pathogenic, contributes to the long-QT syndrome phenotype, co-segregates...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29582136
DOI: 10.1007/s00392-018-1233-3

Genes

KCNQ1
PKP2

Variants

Provenance

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