Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.L869F
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SCN9A

NM_001365536.1:p.L869F

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

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

Primary erythromelalgia mainly manifested by hypertensive crisis: A case report and literature review.

Feng S et al.

Frontiers in Pediatrics, 2022

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

Kapetis D et al.

Bmc Systems Biology, 2017

Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.

Imai N et al.

The Journal of Headache and Pain, 2015

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

Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.

Cregg R et al.

Neuromolecular Medicine, 2013

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

Pain perception is altered by a nucleotide polymorphism in SCN9A.

Reimann F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

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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."