Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
In silico models of the macromolecular NaV1.5-KIR2.1 complex.
Stary-Weinzinger A
Frontiers in Physiology, 2024
Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death.
Buerki SE et al.
Seizure, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Characterization of the novel heterozygous SCN5A genetic variant Y739D associated with Brugada syndrome.
Zaytseva AK et al.
Biochemistry and Biophysics Reports, 2022
Dominant negative effects of SCN5A missense variants.
O'Neill MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.
Neubauer J et al.
International Journal of Legal Medicine, 2021
High-Throughput Reclassification of SCN5A Variants.
Glazer AM et al.
American Journal of Human Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
Nakajima T et al.
International Heart Journal, 2011
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.
Schulze-Bahr E et al.
Human Mutation, 2003
Genetic control of sodium channel function.
Tan HL et al.
Cardiovascular Research, 2003
[Brugada's syndrome: epidemiology, risk stratification, and clinical management].
Grillo M et al.
Italian Heart Journal. Supplement : Official Journal of the Italian Federation of Cardiology, 2002
Natural history of Brugada syndrome: insights for risk stratification and management.
Priori SG et al.
Circulation, 2002
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0
Multiple arrhythmic and cardiomyopathic phenotypes associated with an SCN5A A735E mutation.
Sasaki T et al.
Journal of Electrocardiology, 0