2024年12月25日 · SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11) is a Protein Coding gene. Diseases associated with SCN11A include Episodic Pain Syndrome, Familial, 3 …

Sodium channel, voltage-gated, type XI, alpha subunit also known as SCN11A or Na v 1.9 is a voltage-gated sodium ion channel protein which is encoded by the SCN11A gene on …

2025年2月8日 · we identified a specific de novo missense mutation in SCN11A in individuals with the congenital inability to experience pain who suffer from recurrent tissue damage and severe …

By using whole-exome sequencing followed by conventional Sanger sequencing, we identified two missense mutations in the gene encoding voltage-gated sodium channel Na v 1.9 …

The SCN11A gene encodes a voltage-gated sodium channel that is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia and is a major effector of …

The blue column indicates SCN11A, the yellow column indicates SCN10A, and the green column indicates SCN9A. Four frequent complaints or complications—migraine, gastrointestinal …

2024年12月10日 · Clinical resource with information about SCN11A, Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic …

2013年9月15日 · Using exome sequencing, we identified a specific de novo missense mutation in SCN11A in individuals with the congenital inability to experience pain who suffer from …

Research over the last 20 years has provided valuable insights into the critical roles that two channels, Na V 1.7 and Na V 1.9, play in pain signalling in man. Gain of function mutations in …

2024年11月2日 · Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more …

2024年6月21日 · Familial episodic pain syndrome (FEPS) is an early childhood onset disorder of severe episodic limb pain caused mainly by pathogenic variants of SCN11A, SCN10A, and …

Using exome sequencing, we identified a specific de novo missense mutation in SCN11A in individuals with the congenital inability to experience pain who suffer from recurrent tissue …

Na v 1.9 (gene name SCN11A) is a tetrodotoxin-resistant (TTX-r), so-called persistent Na + current, with clear evidence for functional expression in nociceptive primary sensory neurons …

2018年7月20日 · In this study, we report a family with the Arg225Cys missense mutation in SCN11A that exhibits no clinical and pathophysiologic evidence of peripheral neuropathy, but …

2020年8月20日 · Humans with the gain-of-function mutation p.Leu811Pro in SCN11A (encoding for the voltage-gated Nav1.9 channel) exhibit congenital insensitivity to pain, pruritus, self …

Enables voltage-gated sodium channel activity. Involved in membrane depolarization during action potential and optic nerve development. Located in axon. Is active in glutamatergic …

2024年5月11日 · Here, based on the Ingenuity Knowledge Base’s ingenuity pathway analysis, we found that sodium voltage-gated channel alpha subunit 11A (SCN11A) might serve as a link …

2023年10月29日 · This sequence change creates a premature translational stop signal (p.Arg982*) in the SCN11A gene. It is expected to result in an absent or disrupted protein …

2020年6月29日 · Na v 1.9 (gene name SCN11A) is a tetrodotoxin-resistant (TTX-r), so-called persistent Na + current, with clear evidence for functional expression in nociceptive primary …

2021年3月22日 · The SCN11A gene, encoded Nav1.9 TTX resistant sodium channels, is a main effector in peripheral inflammation related pain in nociceptive neurons. The role of SCN11A …