Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation

Ashley Paquin, Dan Ye, David J. Tester, Jamie D. Kapplinger, Michael T. Zimmermann, Michael J. Ackerman

Research output: Contribution to journalArticlepeer-review

Original languageEnglish (US)
Pages (from-to)37-44
Number of pages8
JournalHeartRhythm Case Reports
Issue number2
StatePublished - Feb 2018


  • Arrhythmia
  • Cardiac arrest
  • Genetics
  • Long QT syndrome
  • Pediatrics

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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