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October 18, 2016; 87 (16) Article

Genetic biomarkers for the risk of seizures in long QT syndrome

David S. Auerbach, Scott McNitt, Robert A. Gross, Wojciech Zareba, Robert T. Dirksen, Arthur J. Moss
First published July 27, 2016, DOI: https://doi.org/10.1212/WNL.0000000000003056
David S. Auerbach
From the Department of Medicine, Aab Cardiovascular Research Institute (D.S.A.), Department of Medicine, Heart Research Follow-up Program (S.M., W.Z., A.J.M.), and Departments of Neurology (R.A.G.) and Pharmacology & Physiology (R.A.G., R.T.D.), University of Rochester School of Medicine and Dentistry, Rochester, NY.
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Scott McNitt
From the Department of Medicine, Aab Cardiovascular Research Institute (D.S.A.), Department of Medicine, Heart Research Follow-up Program (S.M., W.Z., A.J.M.), and Departments of Neurology (R.A.G.) and Pharmacology & Physiology (R.A.G., R.T.D.), University of Rochester School of Medicine and Dentistry, Rochester, NY.
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Robert A. Gross
From the Department of Medicine, Aab Cardiovascular Research Institute (D.S.A.), Department of Medicine, Heart Research Follow-up Program (S.M., W.Z., A.J.M.), and Departments of Neurology (R.A.G.) and Pharmacology & Physiology (R.A.G., R.T.D.), University of Rochester School of Medicine and Dentistry, Rochester, NY.
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Wojciech Zareba
From the Department of Medicine, Aab Cardiovascular Research Institute (D.S.A.), Department of Medicine, Heart Research Follow-up Program (S.M., W.Z., A.J.M.), and Departments of Neurology (R.A.G.) and Pharmacology & Physiology (R.A.G., R.T.D.), University of Rochester School of Medicine and Dentistry, Rochester, NY.
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Robert T. Dirksen
From the Department of Medicine, Aab Cardiovascular Research Institute (D.S.A.), Department of Medicine, Heart Research Follow-up Program (S.M., W.Z., A.J.M.), and Departments of Neurology (R.A.G.) and Pharmacology & Physiology (R.A.G., R.T.D.), University of Rochester School of Medicine and Dentistry, Rochester, NY.
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Arthur J. Moss
From the Department of Medicine, Aab Cardiovascular Research Institute (D.S.A.), Department of Medicine, Heart Research Follow-up Program (S.M., W.Z., A.J.M.), and Departments of Neurology (R.A.G.) and Pharmacology & Physiology (R.A.G., R.T.D.), University of Rochester School of Medicine and Dentistry, Rochester, NY.
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Citation
Genetic biomarkers for the risk of seizures in long QT syndrome
David S. Auerbach, Scott McNitt, Robert A. Gross, Wojciech Zareba, Robert T. Dirksen, Arthur J. Moss
Neurology Oct 2016, 87 (16) 1660-1668; DOI: 10.1212/WNL.0000000000003056

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This article has a correction. Please see:

  • Genetic biomarkers for the risk of seizures in long QT syndrome - June 12, 2018
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Abstract

Objectives: The coprevalence, severity, and biomarkers for seizures and arrhythmias in long QT syndrome (LQTS) remain incompletely understood.

Methods: Using the Rochester-based LQTS Registry, this study included large cohorts of LQTS1–3 participants (LQTS+, n = 965) and those without a LQTS mutation (LQTS−, n = 936).

Results: Compared to LQTS− participants, there was a higher prevalence of LQTS1, LQTS2, and LQTS+ participants classified as having seizures (p < 0.001, i.e., history of seizures/epilepsy or antiseizure medication). LQTS+ participants with longer corrected QT interval (QTc) durations were more likely to have seizures. LQTS2 mutations in the KCNH2 pore domain were positive predictors for both arrhythmias and seizures. In contrast, mutations in the cyclic nucleotide binding domain (cNBD) of KCNH2 conferred a negative risk of seizures, but not arrhythmias. LQTS2, KCNH2-pore, KCNH2-cNBD, QTc duration, and sex were independent predictors of seizures. LQTS+ participants with seizures had significantly longer QTc durations, and a history of seizures was the strongest independent predictor of arrhythmias (hazard ratio 4.09, 95% confidence interval 2.63–6.36, p < 0.001).

Conclusions: This study highlights potential biomarkers for neurocardiac electrical abnormalities in LQTS.

GLOSSARY

aa=
amino acid;
ACA=
aborted cardiac arrest;
ANS=
autonomic nervous system;
CI=
confidence interval;
cNBD=
cyclic nucleotide binding domain;
HR=
hazard ratio;
LQTS=
long QT syndrome;
QTc=
corrected QT interval;
SCD=
sudden cardiac death;
SUDEP=
sudden unexpected death in epilepsy

Footnotes

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Editorial, page 1638

  • Supplemental data at Neurology.org

  • Received January 29, 2016.
  • Accepted in final form May 26, 2016.
  • © 2016 American Academy of Neurology
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