LQTS in Northern BC: Homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function

Clinical Genetics

Volumn 86, Issue 1, 2014, Pages 85-90

  Jackson, H A ^a   Mcintosh, S ^a   Whittome, B ^a   Asuri, S ^a   Casey, B ^b   Kerr, C ^a   Tang, A ^a   Arbour, L T ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

Hearing loss; JLNS; Long QT syndrome; RWS; V205M

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; POTASSIUM CHANNEL KCNQ1; KCNQ1 PROTEIN, HUMAN;

ADULT; ARTICLE; BILATERAL HEARING LOSS; CANADA; CHILD; CONTROLLED STUDY; ELECTROCARDIOGRAPHY; FAINTNESS; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HEARING; HEART ARREST; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POST LINGUAL BILATERAL HEARING LOSS; POTASSIUM CHANNEL KCNQ1 GENE; PRIORITY JOURNAL; QT INTERVAL; SEIZURE; THIRD DEGREE RELATIVE; AMERICAN INDIAN; COMPLICATION; DEAFNESS; GENETICS; HEART MUSCLE; HOMOZYGOTE; JERVELL AND LANGE-NIELSEN SYNDROME; MISSENSE MUTATION; PATHOLOGY; ROMANO-WARD SYNDROME;

BRITISH COLUMBIA; DEAFNESS; ELECTROCARDIOGRAPHY; HOMOZYGOTE; HUMANS; INDIANS, NORTH AMERICAN; JERVELL-LANGE NIELSEN SYNDROME; KCNQ1 POTASSIUM CHANNEL; MUTATION, MISSENSE; MYOCARDIUM; PHENOTYPE; ROMANO-WARD SYNDROME;

EID: 84901692207     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12235     Document Type: Article

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