Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.I848T
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SCN9A

NM_002977.4:p.I848T

Associated Papers

Genetic and Clinical Insights into Inherited Erythromelalgia: A Comprehensive Review of Cases from China and Worldwide.

Li Y et al.

The Journal of Investigative Dermatology, 2026

Mepyramine targets mutant Nav1.7 channels to relieve pain and erythema in primary erythromelalgia patients.

Ducrocq M et al.

Frontiers in Medicine, 2025

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.

Themistocleous AC et al.

Brain Communications, 2023

Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Nav1.7.

Huang G et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

35878056 (PubMed )
Supplement: pnas.2209164119.sapp.pdf

Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect.

Le Cann K et al.

Channels (austin, Tex.), 2021

Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy.

Blesneac I et al.

Pain, 2018

Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus.

Cen Z et al.

Seizure, 2017

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Kapetis D et al.

Bmc Systems Biology, 2017

Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels.

Cregg R et al.

British Journal of Pharmacology, 2014

Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.

Eberhardt M et al.

The Journal of Biological Chemistry, 2014

A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers.

Wu MT et al.

Plos One, 2013

Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.

Skeik N et al.

Vascular Medicine (london, England), 2012

[Analysis of the families and the clinical phenotypes of the generalized epilepsy associated with adjunct febrile seizure].

Chen X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008

Characterization of a familial case with primary erythromelalgia from Taiwan.

Lee MJ et al.

Journal of Neurology, 2007

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.

Yang Y et al.

Journal of Medical Genetics, 2004

Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity.

Kerth CM et al.

The Journal of Biological Chemistry, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."