Linkage between increased nociception and olfaction via a SCN9A haplotype. [PDF]
PLoS ONE, 2013 BACKGROUND AND AIMS: Mutations reducing the function of Nav1.7 sodium channels entail diminished pain perception and olfactory acuity, suggesting a link between nociception and olfaction at ion channel level.
Dirk Heimann +4 more
doaj +9 more sources
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. [PDF]
PLoS Genetics, 2009 A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS) gene, SCN9A encoding Na(v)1.7.
Nanda A Singh +12 more
doaj +6 more sources
Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients [PDF]
Acta Dermato-VenereologicaGain-of-function variants in the voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, have previously been identified in patients with erythromelalgia, a clinical diagnosis defined by intermittent attacks of painful, hot, swollen, and red skin,
Mari Skystad Kvernebo +6 more
doaj +2 more sources
Integrated bioinformatics screening and experimental validation: construction of a LUAD prediction model based on Treg-related genes [PDF]
PeerJBackground The prognosis of lung adenocarcinoma (LUAD) is poor, and clinical treatment mainly comprises a combination of traditional therapy and immunotherapy.
Tian Zhao +7 more
doaj +3 more sources
Deciphering the Structural and Functional Effects of the R1150W Non-Synonymous Variant in SCN9A Linked to Altered Pain Perception [PDF]
NeuroSciThe SCN9A gene, a critical regulator of pain perception, encodes the voltage-gated sodium channel Nav1.7, a key mediator of pain signal transmission.
Faisal A. Al-Allaf +2 more
doaj +2 more sources
Candidate SNP markers of changes in the expression levels of the human SCN9A gene as a hub gene for pain generation, perception, response and anesthesia [PDF]
Вавиловский журнал генетики и селекцииIn this work, we for the first time performed a comprehensive bioinformatics analysis of 568 human genes that, according to the NCBI Gene database as on September 15, 2024, were associated with pain generation, perception and anesthesia.
P. A. Dotsenko +8 more
doaj +2 more sources
Mepyramine targets mutant Nav1.7 channels to relieve pain and erythema in primary erythromelalgia patients [PDF]
Frontiers in MedicineGain-of-function mutations in SCN9A, which encodes the Nav1.7 voltage-gated sodium channel, are known to cause primary erythromelalgia (PEM). This condition is characterized by recurrent episodes of erythema, burning pain, and warmth in the extremities ...
Myriam Ducrocq +9 more
doaj +2 more sources
Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain [PDF]
Frontiers in GeneticsWe report an index patient with complete insensitivity to pain and a history of painless fractures, joint hypermobility, and behavioral problems. The index patient descends from a family with notable cases among his maternal relatives, including his aunt
Aïcha Boughalem +12 more
doaj +2 more sources
Prostate-specific antigen (PSA) screening and follow-up investigations in Māori and non-Māori men in New Zealand [PDF]
, 2014 Text. Pairwise sequence alignment between human SCN9A and homologous genes.
Cestèle, Sandrine +18 more
core +12 more sources
A mini-review: Bridging the gap between autism spectrum disorder and pain comorbidities
Canadian Journal of Pain, 2020 Background Pain is a complex neurobiological response with a multitude of causes; however, patients with autism spectrum disorder (ASD) often report chronic pain with no known etiology.
Chad O. Brown +2 more
doaj +1 more source