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 +9 more sources
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 +5 more sources
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 +5 more sources
Intrafamilial Phenotypic Variability Associated with the I1739V Mutation in the SCN9A Gene [PDF]
Case Reports in Neurology, 2021 The SCN9A gene encodes a voltage gated sodium channel Nav1.7 in which mutations can result in a wide variety of phenotypes ranging from congenital insensitivity to pain to small fiber neuropathy.
Leema Reddy Peddareddygari +1 more
doaj +3 more sources
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
The parabss1 Drosophila melanogaster as Model for Chronic Nociception: Insights Into Cannabidiol Analgesic Effects. [PDF]
Eur J PainABSTRACT Background Chronic pain, which is often unrelated to ongoing injury, is poorly understood and difficult to treat. Genetic studies have identified voltage‐gated sodium (Nav) channels, particularly gain‐of‐function mutations such as L858F and R1150W in human NaV1.7, as involved in the development of chronic pain. Methods A chronic pain model was
Malta SM +7 more
europepmc +2 more sources
SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association. [PDF]
EpilepsiaAbstract Objective The SCN9A gene is primarily expressed in nociceptive pathways within the peripheral nervous system, and pathogenic variants are associated with human pain disorders. In recent years, several studies have proposed SCN9A as a monogenic cause of epilepsy.
Ghanty I +7 more
europepmc +2 more sources
SCN9A channelopathy associated autosomal recessive Congenital Indifference to Pain : a case report
European journal of paediatric dentistry, 2017 Background: Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities.
Cauwels, Rita +3 more
core +4 more sources
Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene [PDF]
Neurology Genetics, 2021 Erythromelalgia is a rare pain syndrome caused by gain-of-function mutations of the SCN9A gene. The gene encodes Nav1.7 channels, preferentially located in the sympathetic ganglia and nociceptive sensory neurons of the dorsal root ganglia (DRG),1 that play a key role in pain modulation.2 DRG hyperexcitability leads to decreased pain threshold and ...
Nwebube, Chineze +4 more
openaire +2 more sources
Novel SCN9A variant associated with congenital insensitivity to pain.
Molecular Biology Reports, 2023 Abstract Background Congenital insensitivity to pain (CIP) is a rare autosomal recessive syndrome characterized by lack of pain perception with a wide spectrum of clinical signs such as anosmia and hyposmia. SCN9A gene variants were found to be associated with CIP.
Tony, Yammine +5 more
openaire +2 more sources