Varaico: Literature-Extracted Genetic Variants

Gene:SCN11A
Variant:p.R222S
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SCN11A

NM_001349253.2:p.R222S

Associated Papers

Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.

Kulichik OE et al.

International Journal of Molecular Sciences, 2025

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

Reduced pain sensitivity of episodic pain syndrome model mice carrying a Nav1.9 mutation by ANP-230, a novel sodium channel blocker.

Okuda H et al.

Heliyon, 2023

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

Zhang P et al.

Annals of Translational Medicine, 2022

Mechanical allodynia triggered by cold exposure in mice with the Scn11a p.R222S mutation: a novel model of drug therapy for neuropathic pain related to NaV1.9.

Matsubara Y et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2021

Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism.

Yang L et al.

Pain, 2020

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

Bennett DL et al.

Physiological Reviews, 2019

SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology.

Castoro R et al.

Neurology. Genetics, 2018

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

30533233 (PubMed )
Supplement: 6898546.f1.pdf

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

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

Okuda H et al.

Plos One, 2016

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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."