Search Results - "Stutzman, Marissa J."

Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors by Giudicessi, John R, Ye, Dan, Stutzman, Marissa J, Zhou, Wei, Tester, David J, Ackerman, Michael J

“…Abstract Aims To determine the prevalence and in vitro electrophysiological (EP) phenotype of ultra-rare SCN5A variants of uncertain significance (VUS)…”
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Functional characterization and identification of a therapeutic for a novel SCN5A-F1760C variant causing type 3 long QT syndrome refractory to all guideline-directed therapies by Stutzman, Marissa J., Gao, Xiaozhi, Kim, Maengjo, Ye, Dan, Zhou, Wei, Tester, David J., Giudicessi, John R., Shannon, Kevin, Ackerman, Michael J.

“…Pathogenic variants in the SCN5A-encoded Nav1.5 sodium channel cause type 3 long QT syndrome (LQT3). We present the case of an infant with severe LQT3 who was…”
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Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential by Stutzman, Marissa J., Kim, C.S. John, Tester, David J., Hamrick, Samantha K., Dotzler, Steven M., Giudicessi, John R., Miotto, Marco C., GC, Jeevan B., Frank, Joachim, Marks, Andrew R., Ackerman, Michael J.

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac channelopathy causing ventricular tachycardia following adrenergic stimulation…”
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Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication by Stutzman, Marissa J., Ye, Dan, Tester, David J., Giudicessi, John R., Ackerman, Michael J.

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Abstract 13281: Idiopathic Ventricular Fibrillation Endophenotype Determines the Yield of Ultra-Rare RYR2 Variants in Youthful Unexplained Sudden Cardiac Arrest by Stutzman, Marissa J, Tester, David J, Ackerman, Michael J, Giudicessi, John R

“…IntroductionLoss-of-function variants in the RYR2-encoded cardiac calcium release channel underlie a small number of unexplained sudden cardiac arrest and…”
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Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication by Stutzman, Marissa J, Ye, Dan, Tester, David J, Giudicessi, John R, Ackerman, Michael J

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