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Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A
2017Die vorliegende Arbeit beschreibt die Identifizierung und Charakterisierung von Sequenzvarianten in den kardialen Ionenkanalgenen KCNH2 und SCN5A. Die Identifizierung von Sequenzvarianten erfolgte bei am plötzlichen Herztod verstorbenen Personen, bei Patienten mit Ionenkanalerkrankungen und deren Familienangehörigen.
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[A novel mutation of the KCNH2 gene in a family with congenital long QT syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2010To perform mutation analysis in a family with long QT syndrome.The medical record of the affected child and his parents were collected. The locus of gene associated with the long QT syndrome was mapped by linkage analysis. Mutation analysis was done by PCR-single strand conformation polymorphism (SSCP) and direct sequencing.A mutation (L539fs/47) and a
Jiangfang, Lian +5 more
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Frontiers of Medicine in China, 2007
Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies, which cause syncope and sudden death. Inherited LQTS is represented by the autosomal dominant Romano-ward syndrome (RWS), which is not accompanied by congenital deafness, and the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), which is accompanied by congenital ...
Rong, Du +9 more
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Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies, which cause syncope and sudden death. Inherited LQTS is represented by the autosomal dominant Romano-ward syndrome (RWS), which is not accompanied by congenital deafness, and the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), which is accompanied by congenital ...
Rong, Du +9 more
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EN-580-03 SUPPRESSION AND REPLACEMENT GENE THERAPY FOR KCNH2-MEDIATED ARRHYTHMIAS
Heart Rhythm, 2022Sahej Bains +6 more
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[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].
Zhonghua nei ke za zhi, 2008To investigate the molecular pathogenesis for two novel mutations L413P and L559H of KCNH2 found in Chinese patients with long QT syndrome.L413P and L559H mutant constructs were generated by site-directed mutagenesis using human wild-type (WT) pcDNA3-HERG cDNA as a template.
Cui-lan, Li +7 more
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BS-400-40 SUPPRESSION AND REPLACEMENT GENE THERAPY FOR KCNH2-MEDIATED ARRHYTHMIAS
Heart Rhythm, 2022Sahej Bains +6 more
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EN-510-02 SUPPRESSION AND REPLACEMENT GENE THERAPY FOR KCNH2-MEDIATED ARRHYTHMIAS
Heart Rhythm, 2022Sahej Bains +6 more
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KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review
Epileptic Disorders, 2023Josemir W. Sander +2 more
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