Associated Papers
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
Almomani R et al.
International Journal of Molecular Sciences, 2023
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM et al.
Molecular Genetics & Genomic Medicine, 2020
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.
Eijkenboom I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.
Abou Ziki MD et al.
Clinical Genetics, 2018
Deep sequencing of atrial fibrillation patients with mitral valve regurgitation shows no evidence of mosaicism but reveals novel rare germline variants.
Gregers E et al.
Heart Rhythm, 2017
Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
Te Riele AS et al.
Journal of Cardiovascular Translational Research, 2016
Common and rare variants in SCN10A modulate the risk of atrial fibrillation.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation.
Savio-Galimberti E et al.
Cardiovascular Research, 2014
Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.
Zhang Z et al.
Scandinavian Journal of Pain, 2014
Painful neuropathies: the emerging role of sodium channelopathies.
Brouwer BA et al.
Journal of the Peripheral Nervous System : Jpns, 2014
Gain-of-function Nav1.8 mutations in painful neuropathy.
Faber CG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012