Compound Heterozygous Mutations P336L and I1660V in the Human Cardiac Sodium Channel Associated With the Brugada Syndrome | Zendy

Jonathan M. Cordeiro | Zendy; Héctor Barajas-Martínez | Zendy; Kui Hong | Zendy; Elena Burashnikov | Zendy; Ryan Pfeiffer | Zendy; Anne-Marie Orsino | Zendy; Yue Wu | Zendy; Dan Hu | Zendy; Josép Brugada | Zendy; Pedro Brugada | Zendy; Charles Antzelevitch | Zendy; Robert Dumaine | Zendy; Ramón Brugada | Zendy

Open Access

Compound Heterozygous Mutations P336L and I1660V in the Human Cardiac Sodium Channel Associated With the Brugada Syndrome

Author(s) -

Jonathan M. Cordeiro,

Héctor Barajas-Martínez,

Kui Hong,

Elena Burashnikov,

Ryan Pfeiffer,

Anne-Marie Orsino,

Yue Wu,

Dan Hu,

Josép Brugada,

Pedro Brugada,

Charles Antzelevitch,

Robert Dumaine,

Ramón Brugada

Publication year - 2006

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/circulationaha.106.627489

Subject(s) - missense mutation , brugada syndrome , medicine , mexiletine , proband , mutation , sodium channel , compound heterozygosity , endocrinology , microbiology and biotechnology , genetics , biology , chemistry , sodium , gene , organic chemistry

Loss-of-function mutations in SCN5A have been associated with the Brugada syndrome. We report the first Brugada syndrome family with compound heterozygous mutations in SCN5A. The proband inherited 1 mutation from each parent and transmitted 1 to each daughter.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research