Associated Papers
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Heterologous expression of the human wild-type and variant NaV 1.8 (A1073V) in rat sensory neurons.
Kapur MM et al.
Neurogastroenterology and Motility, 2024
Pharmacologic Characterization of LTGO-33, a Selective Small Molecule Inhibitor of the Voltage-Gated Sodium Channel NaV1.8 with a Unique Mechanism of Action.
Gilchrist JM et al.
Molecular Pharmacology, 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels.
Loose S et al.
Pflugers Archiv : European Journal of Physiology, 2023
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
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 2023
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Themistocleous AC et al.
Brain Communications, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Benefits and outcomes of a new multidisciplinary approach for the management and financing of sudden unexplained death cases in a forensic setting in Switzerland.
Neubauer J et al.
Forensic Science International, 2022
The Human SCN9A R185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice.
Xue Y et al.
Frontiers in Molecular Neuroscience, 2022
The Human SCN10AG1662S Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity.
Chidiac C et al.
Frontiers in Pharmacology, 2021
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM et al.
Molecular Genetics & Genomic Medicine, 2020
Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.
Almomani R et al.
Plos One, 2020
The Role of Voltage-Gated Sodium Channels in Pain Signaling.
Bennett DL et al.
Physiological Reviews, 2019
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.
Eijkenboom I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Increased Resurgent Sodium Currents in Nav1.8 Contribute to Nociceptive Sensory Neuron Hyperexcitability Associated with Peripheral Neuropathies.
Xiao Y et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
NaV channel variants in patients with painful and nonpainful peripheral neuropathy.
Wadhawan S et al.
Neurology. Genetics, 2017
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
[Pain and analgesia : Mutations of voltage-gated sodium channels].
Eberhardt MJ et al.
Schmerz (berlin, Germany), 2017
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
Kambouris M et al.
Annals of Clinical and Translational Neurology, 2017
JAK-STAT and G-protein-coupled receptor signaling pathways are frequently altered in epitheliotropic intestinal T-cell lymphoma.
Nairismägi ML et al.
Leukemia, 2016
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
SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing.
Kist AM et al.
Plos One, 2016
Painful peripheral neuropathy and sodium channel mutations.
Hoeijmakers JG et al.
Neuroscience Letters, 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
Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
Hu D et al.
Journal of the American College of Cardiology, 2014
Painful neuropathies: the emerging role of sodium channelopathies.
Brouwer BA et al.
Journal of the Peripheral Nervous System : Jpns, 2014
The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability.
Han C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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