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Article

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.

Circulation. Arrhythmia and electrophysiology - 1 May 2018

Smith Jennifer L, Tester David J, Hall Allison R, Burgess Don E, Hsu Chun-Chun, Elayi Samy Claude, Anderson Corey L, January Craig T, Luo Jonathan Z, Hartzel Dustin N, Mirshahi Uyenlinh L, Murray Michael F, Mirshahi Tooraj, Ackerman Michael J, Delisle Brian P

Abstract excerpt

BACKGROUND: Heterologous functional validation studies of putative long-QT syndrome subtype 2-associated variants clarify their pathological potential and identify disease mechanism(s) for most variants studied. The purpose of this study is to clarify the pathological potential for rare nonsynonymous KCNH2 variants seemingly associated with sudden infant death syndrome. METHODS: Genetic testing of 292 sudden...

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Identifiers

PMID: 29752375
DOI: 10.1161/CIRCEP.117.005859
PMCID: PMC11081002

Genes

KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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