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Title:

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.

Document type:
Journal Article
Author(s):
Thomson, Kate L; Jiang, Connie; Richardson, Ebony; Westphal, Dominik S; Burkard, Tobias; Wolf, Cordula M; Vatta, Matteo; Harrison, Steven M; Ingles, Jodie; Bezzina, Connie R; Kroncke, Brett M; Vandenberg, Jamie I; Ng, Chai-Ann
Abstract:
Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes, there is insufficient evidence to make a definitive genetic diagnosis. We have established a robust functional patch-clamp assay to facilitate classification of missense variants in KCNH2, one of the key LQTS genes. A curated set of 30 benign and 30 pathogenic missense variants were used to establish the range of normal...     »
Journal title abbreviation:
HGG Adv
Year:
2024
Journal volume:
5
Journal issue:
2
Fulltext / DOI:
doi:10.1016/j.xhgg.2024.100270
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/38219013
TUM Institution:
Klinik für Kinderkardiologie und angeborene Herzfehler (DHM) (Prof. Ewert); Klinik und Poliklinik für Innere Medizin I, Kardiologie (Prof. Laugwitz)
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