Publications:

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine

Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W

Publication Date: 2022

Variant appearance in text: LQT2: L1066V

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

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H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.

International Journal Of Molecular Sciences

Farrugia, Audrey A; Rollet, Kevin K; Sinniger, Jérome J; Brun, Susana S; Spenle, Caroline C; Ludes, Bertrand B; Taleb, Omar O; Mensah-Nyagan, Ayikoe Guy AG

Publication Date: 2021-08-26

Variant appearance in text: Kv11.1: L1066V

PubMed Link: 34502138

Variant Present in the following documents:

• Main text
• ijms-22-09235.pdf

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Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications

Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT

Publication Date: 2014-11-24

Variant appearance in text: LQT2: L1066V

PubMed Link: 25417810

Variant Present in the following documents:

• Main text
• nihms634670.pdf

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Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

Heart Rhythm

Tester, David J DJ; Valdivia, Carmen C; Harris-Kerr, Carole C; Alders, Marielle M; Salisbury, Benjamin A BA; Wilde, Arthur A M AA; Makielski, Jonathan C JC; Ackerman, Michael J MJ

Publication Date: 2010-07

Variant appearance in text: KCNH2: L1066V

PubMed Link: 20403459

Variant Present in the following documents:

• Main text

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