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July 25, 2025Open Access

Genetic Profile of Pediatric-Onset Cardiac Channelopathies

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Authors

SGSara GiovaniABAdelaide BalleriniAGAlessia Gozzini

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Overview

Research reveals genetic variants linked to arrhythmias in pediatric patients, highlighting the role of genetic testing.

Key Points

  • MAIN FINDING: A causative genetic variant was identified in 47% of pediatric patients with cardiac channelopathies.
  • KEY EVIDENCE: The most common genetic alterations were in KCNQ1 (42%), RYR2 (16%), and other genes.
  • APPROACH: The study involved 59 pediatric patients and used next generation sequencing for genetic analysis.
  • SIGNIFICANCE: Genetic testing aids diagnosis and may lead to personalized therapies for affected children.

Cite This Study

Giovani et al. (2025) studied this question.

synapsesocial.com/papers/689a0933e6551bb0af8ce3f2https://doi.org/10.20944/preprints202507.1722.v1
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genetic Profile of Pediatric-Onset Cardiac Channelopathies2025
  2. 2Genetics of Sudden Cardiac Death, the Channelopathies: Today's Perspective and the Future2021
  3. 3Beyond the Beat, Next-Generation Sequencing Discovery of Novel 2025
  4. 4Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics2024 · 2 citations
  5. 5Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome2023 · 5 citations