p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient

Heart Rhythm

Volumn 10, Issue 2, 2013, Pages 264-272

  Núñez, Lucía ^a   Barana, Adriana ^b   Amorós, Irene ^b   de la Fuente, Marta González ^b   Dolz Gaitón, Pablo ^b   Gómez, Ricardo ^b   Rodríguez García, Isabel ^a   Mosquera, Ignacio ^a   Monserrat, Lorenzo ^a   Delpón, Eva ^b   Caballero, Ricardo ^b   Castro Beiras, Alfonso ^a   Tamargo, Juan ^b  

^a HOSPITAL JUAN CANALEJO   (Spain)

^b SCHOOL OF MEDICINE   (Spain)

Author keywords

Brugada syndrome; Compound heterozygous mutation; Nav1.5 channels; SCN5A gene

Indexed keywords

SODIUM CHANNEL NAV1.5; COMPLEMENTARY DNA;

ADULT; ANIMAL CELL; ARTICLE; BRUGADA SYNDROME; CASE REPORT; CHO CELL LINE; CURRENT DENSITY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; NONHUMAN; PRIORITY JOURNAL; SCN5A GENE; WHOLE CELL PATCH CLAMP; WILD TYPE; ANIMAL; CELL CULTURE; CELL STRAIN HEK293; CHANNEL GATING; COMPARATIVE STUDY; DISEASE MODEL; GENETIC PREDISPOSITION; GENETICS; HAMSTER; METABOLISM; MISSENSE MUTATION; PATCH CLAMP; PATHOPHYSIOLOGY; SENSITIVITY AND SPECIFICITY;

ANIMALS; BRUGADA SYNDROME; CELLS, CULTURED; CRICETINAE; DISEASE MODELS, ANIMAL; DNA, COMPLEMENTARY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HETEROZYGOTE; HUMANS; ION CHANNEL GATING; MUTATION, MISSENSE; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; SENSITIVITY AND SPECIFICITY;

EID: 84880330679     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2012.10.025     Document Type: Article

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