A Common Single Nucleotide Polymorphism Can Exacerbate Long-QT Type 2 Syndrome Leading to Sudden Infant Death | Zendy

Eyal Nof | Zendy; Jonathan M. Cordeiro | Zendy; Guillermo J. Pérez | Zendy; Fabiana S. Scornik | Zendy; Kirstine Calløe | Zendy; Barry A. Love | Zendy; Elena Burashnikov | Zendy; Gabriel Cáceres | Zendy; Moshe Gunsburg | Zendy; Charles Antzelevitch | Zendy

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A Common Single Nucleotide Polymorphism Can Exacerbate Long-QT Type 2 Syndrome Leading to Sudden Infant Death

Author(s) -

Eyal Nof,

Jonathan M. Cordeiro,

Guillermo J. Pérez,

Fabiana S. Scornik,

Kirstine Calløe,

Barry A. Love,

Elena Burashnikov,

Gabriel Cáceres,

Moshe Gunsburg,

Charles Antzelevitch

Publication year - 2010

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.109.898569

Subject(s) - long qt syndrome , herg , sudden death , asymptomatic , qt interval , nonsense mutation , medicine , genetics , sudden cardiac death , single nucleotide polymorphism , biology , genotype , mutation , missense mutation , gene , potassium channel

Identification of infants at risk for sudden arrhythmic death remains one of the leading challenges of modern medicine. We present a family in which a common polymorphism (single nucleotide polymorphism) inherited from the father, combined with a stop codon mutation inherited from the mother (both asymptomatic), led to 2 cases of sudden infant death.

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