Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden

Europace

Volumn 14, Issue 12, 2012, Pages 1799-1806

  Winbo, Annika ^a   Stattin, Eva Lena ^a,b   Diamant, Ulla Britt ^a   Persson, Johan ^a   Jensen, Steen M ^a   Rydberg, Annika ^a  

^a UMEÅ UNIVERSITY   (Sweden)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cardiac phenotype; Founder effects; Jervell and Lange Nielsen syndrome; KCNQ1 gene; Therapy efficacy

Indexed keywords

ALPRENOLOL; PINDOLOL; POTASSIUM CHANNEL KCNQ1; PROPRANOLOL;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; ELECTROCARDIOGRAPHY; FEMALE; GENOTYPE; HEART ARREST; HETEROZYGOTE; HUMAN; LONG QT SYNDROME; MALE; MEDICAL RECORD REVIEW; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; QT PROLONGATION; RETROSPECTIVE STUDY; SCHOOL CHILD; SWEDEN;

CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; JERVELL-LANGE NIELSEN SYNDROME; KCNQ1 POTASSIUM CHANNEL; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; RISK FACTORS; SWEDEN;

EID: 84870171351     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/eus111     Document Type: Article

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