Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy-Reference-Cited by-同舟云学术

Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy

Published:2023-08-19 Issue:8 Volume:44 Page:1736-1740
ISSN:0172-0643
Container-title:Pediatric Cardiology
language:en
Short-container-title:Pediatr Cardiol

Author:

Righi Daniela^ORCID,Porco Luigina,Di Mambro Corrado,Gnazzo Maria,Baban Anwar,Paglia Simone,Silvetti Massimo Stefano,Novelli Antonio,Tozzi Alberto Eugenio,Drago Fabrizio

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine,Pediatrics, Perinatology and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s00246-023-03266-y.pdf

Reference18 articles.

1. Tyson J, Tranebjaerg L, Bellman S et al (1997) LQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 6(12):2179–2185. https://doi.org/10.1093/hmg/6.12.2179. (PMID: 9328483)

2. Schwartz PJ, Spazzolini C, Crotti L et al (2006) The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation 113(6):783–790. https://doi.org/10.1161/CIRCULATIONAHA.105.592899. (Epub 2006 Feb 6 PMID: 16461811)

3. Wang Z, Li H, Moss AJ, Robinson J, Zareba W, Knilans T, Bowles NE, Towbin JA (2002) Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. Mol Genetics Metabol 75:308–316

4. Jervell A, Lange-Nielsen F (1957) Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 54:59–68

5. Fraser GR, Froggatt P, Murphy T (1964) Genetical aspects of the cardioauditory syndrome of Jervell and Lange-Nielsen (congenital deafness and electrocardiographic abnormalities). Ann Hum Genet 28:133–157

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