Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.A1304T
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SCN10A

NM_006514.4:p.A1304T

Associated Papers

Pharmacologic Characterization of LTGO-33, a Selective Small Molecule Inhibitor of the Voltage-Gated Sodium Channel NaV1.8 with a Unique Mechanism of Action.

Gilchrist JM et al.

Molecular Pharmacology, 2024

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.

Almomani R et al.

International Journal of Molecular Sciences, 2023

37175987 (PubMed )
Supplement: ijms-24-08278-s001.zip › ijms-2239683-supplementary.pdf

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 Syndromes.

Shen Y et al.

Journal of Pain Research, 2022

Familial trigeminal neuralgia - a systematic clinical study with a genomic screen of the neuronal electrogenisome.

Di Stefano G et al.

Cephalalgia : an International Journal of Headache, 2020

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Eijkenboom I et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Annotation of functional impact of voltage-gated sodium channel mutations.

Hinard V et al.

Human Mutation, 2017

Voltage-gated sodium channels and pain-related disorders.

Kanellopoulos AH et al.

Clinical Science (london, England : 1979), 2016

Painful peripheral neuropathy and sodium channel mutations.

Hoeijmakers JG et al.

Neuroscience Letters, 2015

Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.

Zhang Z et al.

Scandinavian Journal of Pain, 2014

Painful neuropathies: the emerging role of sodium channelopathies.

Brouwer BA et al.

Journal of the Peripheral Nervous System : Jpns, 2014

Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.

Huang J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Gain-of-function Nav1.8 mutations in painful neuropathy.

Faber CG et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.

Yuan JH et al.

Pain Reports, 0

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