A Novel Bradycardia-Associated Variant in <i>HCN4</i> as a Candidate Modifier in Type 3 Long QT Syndrome: Case Report and Deep In Silico Analysis

A Novel Bradycardia-Associated Variant in <i>HCN4</i> as a Candidate Modifier in Type 3 Long QT Syndrome: Case Report and Deep In Silico Analysis

<b>Background:</b> Genetic testing for long QT syndrome (LQTS) is straightforward in many families; however, in severe and complex cases, a single disease-causing variant may not be enough to explain all clinical features. In such cases, the search for genetic modifiers may be beneficial...

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Main Authors: Anna A. Bukaeva, Anastasia V. Blokhina, Maria S. Kharlap, Marija Zaicenoka, Evgenia D. Zotova, Anna V. Petukhova, Elizaveta V. Garbuzova, Anastasia A. Zharikova, Mikhail G. Divashuk, Anna V. Kiseleva, Alexandra I. Ershova, Alexey N. Meshkov, Oxana M. Drapkina
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Biomedicines
Subjects:
long QT syndrome
bradycardia
exome sequencing
genetic testing
<i>HCN4</i>
<i>SCN5A</i>
Online Access:https://www.mdpi.com/2227-9059/13/4/1008
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