Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site

Abstract Aims Pathogenic gain-of-function variants in CACAN1C cause type-8 long QT syndrome (LQT8). We sought to describe the electrocardiographic features in LQT8 and utilize molecular modelling to gain mechanistic insights into its genetic culprits. Methods and results Rare variants in CACNA1C wer...

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Veröffentlicht in:	Europace (London, England) England), 2019-11, Vol.21 (11), p.1725-1732
Hauptverfasser:	Mellor, Greg J, Panwar, Pankaj, Lee, Andrea K, Steinberg, Christian, Hathaway, Julie A, Bartels, Kirsten, Christian, Susan, Balaji, Seshadri, Roberts, Jason D, Simpson, Chris S, Boczek, Nicole J, Tester, David J, Radbill, Andrew E, Mok, Ngai-Shing, Hamilton, Robert M, Kaufman, Elizabeth S, Eugenio, Paul L, Weiss, Raul, January, Craig, McDaniel, George M, Leather, Richard A, Erickson, Christopher, Falik, Shelley, Behr, Elijah R, Wilde, Arthur A M, Sanatani, Shubhayan, Ackerman, Michael J, Van Petegem, Filip, Krahn, Andrew D, Laksman, Zachary
Format:	Artikel
Sprache:	eng
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