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 John Ackerman

Research output: Contribution to journalArticle

Original languageEnglish (US)
JournalHeartRhythm Case Reports
DOIs
StateAccepted/In press - Jan 1 2018

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Romano-Ward Syndrome
Long QT Syndrome
Heart Arrest
Cardiac Arrhythmias
Pediatrics

Keywords

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

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

@article{60b86de7d5984da584477771dc982295,
title = "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",
keywords = "Arrhythmia, Cardiac arrest, Genetics, Long QT syndrome, Pediatrics",
author = "Ashley Paquin and Dan Ye and Tester, {David J.} and Kapplinger, {Jamie D.} and Zimmermann, {Michael T.} and Ackerman, {Michael John}",
year = "2018",
month = "1",
day = "1",
doi = "10.1016/j.hrcr.2017.04.006",
language = "English (US)",
journal = "HeartRhythm Case Reports",
issn = "2214-0271",
publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - 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

T2 - Do not rely solely on the genetic test company's interpretation

AU - Paquin, Ashley

AU - Ye, Dan

AU - Tester, David J.

AU - Kapplinger, Jamie D.

AU - Zimmermann, Michael T.

AU - Ackerman, Michael John

PY - 2018/1/1

Y1 - 2018/1/1

KW - Arrhythmia

KW - Cardiac arrest

KW - Genetics

KW - Long QT syndrome

KW - Pediatrics

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U2 - 10.1016/j.hrcr.2017.04.006

DO - 10.1016/j.hrcr.2017.04.006

M3 - Article

AN - SCOPUS:85039993420

JO - HeartRhythm Case Reports

JF - HeartRhythm Case Reports

SN - 2214-0271

ER -