A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore

Europace

Volumn 18, Issue 6, 2016, Pages 897-904

  Tan, Boon Yew ^a   Yong, Rita Yu Yin ^b,c   Barajas Martinez, Hector ^d   Dumaine, Robert ^e   Chew, Ying Xia ^b   Wasan, Pavandip Singh ^b,c   Ching, Chi Keong ^a   Ho, Kah Leng ^a   Gan, Linda Seo Hwee ^b   Morin, Nathalie ^b,c   Chong, Alicia Poh Leng ^b   Yap, Shiao Hui ^b   Neo, Jia Ling ^b   Yap, Eric Peng Huat ^b,f   Moochhala, Shabbir ^b   Chong, Daniel Thuan Tee ^a   Chow, Weien ^g   Seow, Swee Chong ^h   Hu, Dan ^d,i   Uttamchandani, Mahesh ^a,b,c   Teo, Wee Siong ^a   more..

^a DEPARTMENT OF CARDIOLOGY   (Singapore)

^b DSO NATIONAL LABORATORIES   (Singapore)

^c NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^d MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^e UNIVERSITÉ DE SHERBROOKE   (Canada)

^f NANYANG TECHNOLOGICAL UNIVERSITY   (Singapore)

^g Singapore Army   (Singapore)

^h NATIONAL UNIVERSITY HOSPITAL   (Singapore)

ⁱ RENMIN HOSPITAL OF WUHAN UNIVERSITY   (China)

Author keywords

Brugada syndrome; Channelopathy; Compound heterozygote; Nav1.5; SCN5A

Indexed keywords

ALANINE; SODIUM CHANNEL NAV1.5; SODIUM CHANNEL P.A226V; SODIUM CHANNEL P.R1629X; UNCLASSIFIED DRUG; VALINE; SCN5A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BRUGADA SYNDROME; CASE REPORT; CHINESE; ELECTROCARDIOGRAM; EXON; FAMILY ASSESSMENT; FEMALE; FIRST-DEGREE RELATIVE; GENE EXPRESSION; GENE MUTATION; HEART ELECTROPHYSIOLOGY; HETEROZYGOSITY; HUMAN; INHERITANCE; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PATCH CLAMP TECHNIQUE; POLYMORPHIC VENTRICULAR TACHYCARDIA; POPULATION; PRIORITY JOURNAL; SINGAPORE; SODIUM CURRENT; TREADMILL TEST; WILD TYPE; YOUNG ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CELL LINE; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; GENETICS; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; MIDDLE AGED; MISSENSE MUTATION; PEDIGREE; PHENOTYPE;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BRUGADA SYNDROME; CELL LINE; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; EXONS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; PHENOTYPE; SINGAPORE; TACHYCARDIA, VENTRICULAR; YOUNG ADULT;

EID: 84983754917     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/euv058     Document Type: Article

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