Associated Papers
Dual receptor-sites reveal the structural basis for hyperactivation of sodium channels by poison-dart toxin batrachotoxin.
Tonggu L et al.
Nature Communications, 2024
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
Martone S et al.
Frontiers in Genetics, 2022
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.
Zhang Z et al.
Frontiers in Cardiovascular Medicine, 2021
Clinical implications of sarcomere and nonsarcomere gene variants in patients with left ventricular noncompaction cardiomyopathy.
Li S et al.
Molecular Genetics & Genomic Medicine, 2019
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy.
Li S et al.
Journal of the American Heart Association, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?
Liu C et al.
Forensic Science International, 2014
Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.
Gütter C et al.
Frontiers in Physiology, 2013
Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese.
Liang P et al.
Journal of Cardiovascular Disease Research, 2010
Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.
Medeiros-Domingo A et al.
Heart Rhythm, 2009
[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].
Liang P et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2006
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0