2020 - High Throughput screening of missense variants in KCNH2
SyncroPatch 384PE (a predecessor model of the SyncroPatch 384) presentation (slide deck) (3 MB)
Prof. Dr. Jamie Vandenberg, co-deputy director and head of cardiac electrophysiology
The Victor Chang Cardiac Research Institute, Australia
The 64th Annual Meeting of the Biophysical Society, San Diego, CA (USA)
Feb 15-19. 2020
Mutations in the KCNH2 gene are a well-established cause of sudden cardiac death, resulting from disturbed electrical signalling, in otherwise healthy young people. Yet, the majority of missense variants identified in KCNH2 are likely to be benign. To differentiate between benign and pathogenic variants in KCNH2 we have developed a high throughput functional assay using the syncropatch 384PE automated patch clamp system.
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Access our recent publication where we looked at KCNH2 variants. Currently featured in the March 2020 edition of Heart Rhythm - Elsevier