Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5959998 | Heart Rhythm | 2015 | 9 Pages |
Abstract
Through expanded whole exome sequencing, we identified a novel genetic substrate for TS, p.Ile1166Thr-CACNA1C. Electrophysiologic experiments combined with modeling studies have identified a novel TS mechanism through increased window current. Therefore, expanded genetic testing in cases of TS to the entire CACNA1C coding region, if initial targeted testing is negative, may be warranted.
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Authors
Nicole J. BA, Erin M. MS, LCGC, Dan MD, Vladislav V. PhD, David J. BS, Charles PhD, FHRS, Richard J. MD, Michael J. MD, PhD, Stephanie M. MD, PhD,