Publications:

Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.

Annals Of Clinical And Translational Neurology

Soh, Ming S MS; Bagnall, Richard D RD; Bennett, Mark F MF; Bleakley, Lauren E LE; Mohamed Syazwan, Erlina S ES; Phillips, A Marie AM; Chiam, Mathew D F MDF; McKenzie, Chaseley E CE; Hildebrand, Michael M; Crompton, Douglas D; Bahlo, Melanie M; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA

Publication Date: 2021-07

Variant appearance in text: KCNH2: Y54H

PubMed Link: 34002542

Variant Present in the following documents:

• Main text
• ACN3-8-1422.pdf

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A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ

Publication Date: 2020-10

Variant appearance in text: Kv11.1: Y54H

PubMed Link: 32475984

Variant Present in the following documents:

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: LQT2: Y54H

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

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Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.

Frontiers In Physiology

Kanner, Scott A SA; Jain, Ananya A; Colecraft, Henry M HM

Publication Date: 2018

Variant appearance in text: LQT2: Y54H

PubMed Link: 29725305

Variant Present in the following documents:

• Main text
• fphys-09-00397.pdf

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Exploiting ion channel structure to assess rare variant pathogenicity.

Heart Rhythm

Kroncke, Brett M BM; Yang, Tao T; Kannankeril, Prince P; Shoemaker, M Benjamin MB; Roden, Dan M DM

Publication Date: 2018-06

Variant appearance in text: KCNH2: Tyr54His

PubMed Link: 29330128

Variant Present in the following documents:

• Main text

View BVdb publication page