Phenotypic Characterization of a Novel Long-QT Syndrome Mutation (R1623Q) in the Cardiac Sodium Channel | Zendy

Nicholas G. Kambouris | Zendy; Hanne Nuss | Zendy; David C. Johns | Zendy; Gordon F. Tomaselli | Zendy; Eduardo Marbán | Zendy; Jeffrey R. Balser | Zendy

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Phenotypic Characterization of a Novel Long-QT Syndrome Mutation (R1623Q) in the Cardiac Sodium Channel

Author(s) -

Nicholas G. Kambouris,

Hanne Nuss,

David C. Johns,

Gordon F. Tomaselli,

Eduardo Marbán,

Jeffrey R. Balser

Publication year - 1998

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/01.cir.97.7.640

Subject(s) - long qt syndrome , sodium channel , mutation , gating , medicine , phenotype , genetics , nav1.5 , qt interval , gene , sodium , biology , physiology , chemistry , organic chemistry

A heritable form of the long-QT syndrome (LQT3) has been linked to mutations in the cardiac sodium channel gene (SCN5A). Recently, a sporadic SCN5A mutation was identified in a Japanese girl afflicted with the long-QT syndrome. In contrast to the heritable mutations, this externally positioned domain IV, S4 mutation (R1623Q) neutralized a charged residue that is critically involved in activation-inactivation coupling.

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