Results 21 to 30 of about 4,664 (202)
Diffusion Tensor Imaging Reveals Altered Centrality of Pain-Related Regions in SCN9A-Associated Small Fiber Neuropathy. [PDF]
J NeuroimagingABSTRACT Background and Purpose Small fiber neuropathy (SFN) is a neuropathic disorder that is associated with chronic pain. While most SFN cases are idiopathic, SFN can also have hereditary causes. For example, rare SCN9A gene mutations can impair the NaV1.7 sodium channel, which leads to dorsal root ganglion neuron hyperexcitability, causing SFN ...
Drenthen GS +11 more
europepmc +2 more sources
Dermatology Practical & Conceptual, 2023 Introduction: Primary erythromelalgia (EM) is a rare clinical syndrome characterized by recurrent erythema, burning pain and warmth of the extremities. The symptoms greatly compromise the patients' quality of life leading to severe disability.
Andrea Michelerio +3 more
doaj +1 more source
Mutations in Sodium Channel Gene SCN9A and the Pain Perception Disorders [PDF]
Advances in Anesthesiology, 2015 Voltage-gated sodium channels (NaV) play a crucial role in development and propagation of action potentials in neurons and muscle cells. NaV1.7 channels take a special place in modern science since it is believed that they contribute to nerve hyperexcitability.
Danica Marković +2 more
openaire +1 more source
Neanderthal introgression in SCN9A impacts mechanical pain sensitivity
Communications Biology, 2023 The Nav1.7 voltage-gated sodium channel plays a key role in nociception. Three functional variants in the SCN9A gene (encoding M932L, V991L, and D1908G in Nav1.7), have recently been identified as stemming from Neanderthal introgression and to associate ...
Pierre Faux +32 more
doaj +1 more source
No association between SCN9A and monogenic human epilepsy disorders.
PLoS Genetics, 2020 Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling.
James Fasham +9 more
doaj +1 more source
Two NovelSCN9AGene Heterozygous Mutations May Cause Partial Deletion of Pain Perception [PDF]
Pain Medicine, 2011 The physiological sensation of pain and rapid response to stimuli serve as an adaptive way to avoid harmful situations. Our purpose was to investigate why this protection disappears or almost disappears for patients with congenital indifference to pain (CIP).The study was designed as a case report by scanning the candidate genes within CIP patients.The
Ruimei, Yuan +6 more
openaire +2 more sources
Expression and Physiology of Voltage-Gated Sodium Channels in Developing Human Inner Ear
Frontiers in Neuroscience, 2021 Sodium channel expression in inner ear afferents is essential for the transmission of vestibular and auditory information to the central nervous system.
Rikki K. Quinn +14 more
doaj +1 more source
Pharmacogenetics of analgesic drugs [PDF]
, 2013 • Individual variability in pain perception and differences in the efficacy of analgesic drugs are complex phenomena and are partly genetically predetermined.
Branford, R +4 more
core +1 more source
SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain
Journal of Veterinary Internal Medicine, 2023 Background Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSANs) are a rare group of genetic disorders causing inability to feel pain.
Rodrigo Gutierrez‐Quintana +5 more
doaj +1 more source
Pain triangle phenomenon in possible association with SCN9A: A case report
Molecular Genetics & Genomic Medicine, 2022 Background Voltage‐gated sodium channels are essential for the generation and conduction of electrical impulses in excitable cells. Sodium channel Nav1.7, encoded by the SCN9A‐gene, has been of special interest in the last decades because missense gain ...
Maurice Sopacua +4 more
doaj +1 more source