Varaico: Literature-Extracted Genetic Variants

Gene:SCN11A
Variant:p.V1184A
Back to variants list

SCN11A

NM_001349253.2:p.V1184A

Associated Papers

Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.

Noguchi A et al.

International Journal of Molecular Sciences, 2024

Inhibition of the Human Neuronal Sodium Channel Nav1.9 by Arachidonyl-2-Chloroethylamide, An Analogue of Anandamide in a hNav1.9/rNav1.4 Chimera, An Experimental and in Silico Study.

Marchese-Rojas M et al.

Neuroscience, 2023

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

Familial episodic pain syndrome: a case report and literature review.

Zhang P et al.

Annals of Translational Medicine, 2022

Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.

Baker MD et al.

Pflugers Archiv : European Journal of Physiology, 2020

The Role of Voltage-Gated Sodium Channels in Pain Signaling.

Bennett DL et al.

Physiological Reviews, 2019

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.

Sambuughin N et al.

Case Reports in Genetics, 2018

Familial episodic limb pain in kindreds with novel Nav1.9 mutations.

Kabata R et al.

Plos One, 2018

Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor.

Leng XR et al.

Journal of Human Genetics, 2017

Paroxysmal limb intolerable pain (infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome).

Noguchi A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2017

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

Han C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

Nav1.7 and other voltage-gated sodium channels as drug targets for pain relief.

Emery EC et al.

Expert Opinion on Therapeutic Targets, 2016

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.

Okuda H et al.

Plos One, 2016

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.

Leipold E et al.

Nature Communications, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."