R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation

Heart Rhythm

Volumn 8, Issue 1, 2011, Pages 48-55

  Bartos, Daniel C ^a   Duchatelet, Sabine ^b,c   Burgess, Don E ^a,d   Klug, Didier ^e   Denjoy, Isabelle ^b,c,f   Peat, Rachel ^b,c   Lupoglazoff, Jean Marc ^b,c,g   Fressart, Vronique ^b,c   Berthet, Myriam ^b,c   Ackerman, Michael J ^h   January, Craig T ⁱ   Guicheney, Pascale ^b,c   Delisle, Brian P ^a  

^a UNIVERSITY OF KENTUCKY   (United States)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d Asbury College   (United States)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f HÔPITAL LARIBOISIÈRE   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h MAYO CLINIC   (United States)

ⁱ UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

Atrial fibrillation; Familial atrial fibrillation; Genetics; Ion channel; KCNQ1; Long QT syndrome; Long QT syndrome type 1

Indexed keywords

POTASSIUM CHANNEL KCNQ1;

ADOLESCENT; ADULT; ARTICLE; CELL STRAIN HEK293; CHANNEL GATING; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM FIBRILLATION; HUMAN; HUMAN CELL; LONG QT SYNDROME; LONG QT SYNDROME TYPE 1; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PLEIOTROPY; POTASSIUM CURRENT; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 78650665141     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2010.09.010     Document Type: Article

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