Varaico: Literature-Extracted Genetic Variants

Gene:KCNE5
Variant:p.E93*
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KCNE5

NM_012282.4:p.E93*

Associated Papers

Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study.

Wang S et al.

International Journal of Legal Medicine, 2023

Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 2019

Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-associated Kcne5 augments ventricular KV currents and predisposes to ventricular arrhythmia.

David JP et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.

Lin Y et al.

Bmc Medical Genetics, 2018

Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Wu Y et al.

Forensic Sciences Research, 2017

KCNE4 and KCNE5: K(+) channel regulation and cardiac arrhythmogenesis.

Abbott GW

Gene, 2016

Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Crump SM et al.

Frontiers in Genetics, 2014

Arrhythmogenesis in Brugada syndrome: impact and constrains of current concepts.

Bébarová M

International Journal of Cardiology, 2013

The genetic component of Brugada syndrome.

Nielsen MW et al.

Frontiers in Physiology, 2013

KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation.

Ohno S et al.

Circulation. Arrhythmia and Electrophysiology, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."