Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C , and CALM1-Reference-Cited by-同舟云学术

Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C , and CALM1

Published:2021-12-16 Issue:2 Volume:33 Page:262-273
ISSN:1045-3873
Container-title:Journal of Cardiovascular Electrophysiology
language:en
Short-container-title:Cardiovasc electrophysiol

Author:

Akgun‐Dogan Ozlem¹^ORCID,Ağaoğlu Nihat B.²,K. Demirkol Yasemin¹,Doğanay Levent³,Ergül Yakup⁴,Karacan Mehmet⁵^ORCID

Affiliation:

1. Division of Pediatric Genetics Umraniye Training and Research Hospital Istanbul Turkey

2. Department of Medical Genetics Umraniye Training and Research Hospital Istanbul Turkey

3. Department of Internal Medicine, Genomic Laboratory (GLAB) Umraniye Training and Research Hospital Istanbul Turkey

4. Department of Pediatric Cardiology Mehmet Akif Ersoy Thoracic and Cardiovascular Research and Education Hospital Istanbul Turkey

5. Department of Pediatric Cardiology Umraniye Training and Research Hospital Istanbul Turkey

Publisher

Wiley

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jce.15306

Reference22 articles.

1. Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants

2. Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand

3. Detection of sudden death syndromes in New Zealand;Earle N;N Z Med J,2016

4. HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

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1. Clinical and Genetic Characteristics of 18 Cases with Suspected Congenital Long QT Syndrome: A Retrospective Cross-Sectional Study;Heart and Mind;2024-02-29

2. Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review;Molecular Genetics & Genomic Medicine;2023-10-31

3. Genetics of sinoatrial node function and heart rate disorders;Disease Models & Mechanisms;2023-05-01