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

doi:10.1016/j.hrcr.2017.04.006

Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K_v7.1 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

Cardiovascular Medicine

Research output: Contribution to journal › Article › peer-review

Original language	English (US)
Pages (from-to)	37-44
Number of pages	8
Journal	HeartRhythm Case Reports
Volume	4
Issue number	2
DOIs	https://doi.org/10.1016/j.hrcr.2017.04.006
State	Published - Feb 2018

Keywords

Arrhythmia
Cardiac arrest
Genetics
Long QT syndrome
Pediatrics

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

Access to Document

10.1016/j.hrcr.2017.04.006

Cite this

Paquin, A., Ye, D., Tester, D. J., Kapplinger, J. D., Zimmermann, M. T., & Ackerman, M. J. (2018). Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K_v7.1 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. HeartRhythm Case Reports, 4(2), 37-44. https://doi.org/10.1016/j.hrcr.2017.04.006

Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K_v7.1 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. / Paquin, Ashley; Ye, Dan; Tester, David J. et al.
In: HeartRhythm Case Reports, Vol. 4, No. 2, 02.2018, p. 37-44.

Research output: Contribution to journal › Article › peer-review

Paquin, A, Ye, D, Tester, DJ, Kapplinger, JD, Zimmermann, MT & Ackerman, MJ 2018, 'Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K_v7.1 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', HeartRhythm Case Reports, vol. 4, no. 2, pp. 37-44. https://doi.org/10.1016/j.hrcr.2017.04.006

Paquin A, Ye D, Tester DJ, Kapplinger JD, Zimmermann MT, Ackerman MJ. Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K_v7.1 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. HeartRhythm Case Reports. 2018 Feb;4(2):37-44. doi: 10.1016/j.hrcr.2017.04.006

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author = "Ashley Paquin and Dan Ye and Tester, {David J.} and Kapplinger, {Jamie D.} and Zimmermann, {Michael T.} and Ackerman, {Michael J.}",

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