Candidate SNP markers of changes in the expression levels of the human SCN9A gene as a hub gene for pain generation, perception, response and anesthesia

Authors: P. A. Dotsenko, K. A. Zolotareva, R. A. Ivanov, I. V. Chadaeva, N. L. Podkolodnyy, V. A. Ivanisenko, P. S. Demenkov, S. A. Lashin, M. P. Ponomarenko

Source: Вавиловский журнал генетики и селекции, Vol 28, Iss 8, Pp 808-821 (2025)

Subject Terms: human, tbp, snp, promoter, hub gene, scn9a, expression change, pain generation, pain perception, pain response, anesthesia, Genetics, QH426-470

File Description: electronic resource

Relation: https://vavilov.elpub.ru/jour/article/view/4403; https://doaj.org/toc/2500-3259

Access URL: https://doaj.org/article/4b0dfb9cc3494a91925c3a4c5b7b479d

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic

Authors: Yara Hussein, Hila Weisblum‐Neuman, Bruria Ben Zeev, Shani Stern

Source: Epilepsia Open, Vol 9, Iss 6, Pp 2443-2453 (2024)

Subject Terms: epilepsy, next‐generation sequencing, RANBP2, RYR3, SCN9A, variant of uncertain significance, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2470-9239

Access URL: https://doaj.org/article/8b174e20817840b48b32ee1a0169fcb3

Paroxysmal extreme pain disorder associated with a mutation in SCN9A gene – Case report and own experiences

Authors: Mateusz Szczupak, Jolanta Wierzchowska, Maria Cimoszko-Zauliczna, Jacek Kobak, Justyna Kosydar-Bochenek, Wojciech Radys, Agnieszka Szlagatys-Sidorkiewicz, Dorota Religa, Sabina Krupa-Nurcek

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: pain, paroxysmal extreme pain syndrome, SCN9A gene, genetic variability, chronic pain, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1477982/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/11b8f738a8cc4c80a0805555447f2b58

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain

Authors: Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Sophie Zimmer, Marion Benazra, Pascale Kleinfinger, Laurence Lohmann, Mylène Valduga, Aline Receveur, Fernando Martin, Detlef Trost

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: optical genome mapping, SCN9A gene, insensitivity to pain, non-coding structural variant, structural variant detection, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1375770/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/75404f07759d4b46944b978c0e7573c8

Primary erythromelalgia caused by SCN9A gene mutation: A case report and literature review

Authors: Cuicui SUN, Sai YANG, Hang ZHENG, Yunsheng LIANG, Zhimiao LIN, Yongfeng CHEN

Source: Pifu-xingbing zhenliaoxue zazhi, Vol 31, Iss 1, Pp 15-21 (2024)

Subject Terms: erythromelalgia, scn9a gene, nav1.7 channel, Dermatology, RL1-803

File Description: electronic resource

Relation: http://pfxbzlx.gdvdc.com/EN/10.3969/j.issn.1674-8468.2024.01.003; https://doaj.org/toc/1674-8468

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A Review of the Therapeutic Targeting of SCN9A and Nav1.7 for Pain Relief in Current Human Clinical Trials

Authors: Dormer A, Narayanan M, Schentag J, Achinko D, Norman E, Kerrigan J, Jay G, Heydorn W

Source: Journal of Pain Research, Vol Volume 16, Pp 1487-1498 (2023)

Subject Terms: scn9a, nav1.7, chronic pain, opioid crisis, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.dovepress.com/a-review-of-the-therapeutic-targeting-of-scn9a-and-nav17-for-pain-reli-peer-reviewed-fulltext-article-JPR; https://doaj.org/toc/1178-7090

Access URL: https://doaj.org/article/11c7f9f9179b46c68313fedd9c58453e

Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients

Authors: Boushra Khaled, Mahmoud Alzahayqa, Ahmad Jaffal, Husam Sallam, Rua’a Thawabta, Mamoun Mansour, Akram Alian, Zaidoun Salah

Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)

Subject Terms: Pain, CIP, CIPA, NTRK1and SCN9A, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/1c88a5fef455406391981b3a8ed024f2

A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report

Authors: Yi Hua, Di Cui, Lin Han, Lu Xu, Shanshan Mao, Cuiwei Yang, Feng Gao, Zhefeng Yuan

Source: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-6 (2022)

Subject Terms: Paroxysmal extreme pain disorder (PEPD), Harlequin color change (HCC), Headache, SCN9A gene, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/2903abdcc73046a5acbb5d34779d1f1b

Clinical Challenges in Primary Erythromelalgia: A Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal

Authors: Andrea Michelerio, Carlo Tomasini, Eloisa Arbustini, Camilla Vassallo

Source: Dermatology Practical & Conceptual, Vol 13, Iss 3 (2023)

Subject Terms: erythromelalgia, SCN9A protein, NAV1.7 Voltage-Gated Sodium Channel, mexiletine, treatments, Dermatology, RL1-803

File Description: electronic resource

Relation: http://dpcj.org/index.php/dpc/article/view/3049; https://doaj.org/toc/2160-9381

Access URL: https://doaj.org/article/77de141afbbf4153a90f832bf573634e

E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current

Authors: Takahashi, Kiichi ^a, Ohba, Takayoshi ^b, Okamoto, Yosuke ^b, Noguchi, Atsuko ^a, Okuda, Hiroko ^c, Kobayashi, Hatasu ^d, Harada, Kouji H. ^e, Koizumi, Akio ^f, Ono, Kyoichi ^b, Takahashi, Tsutomu ^{a, ∗}

Source: In Heliyon June 2021 7(6)

Pain triangle phenomenon in possible association with SCN9A: A case report

Authors: Maurice Sopacua, Janneke G. J. Hoeijmakers, Anneke J. van derKooi, Ingemar S. J. Merkies, Catharina G. Faber

Source: Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)

Subject Terms: genotype–phenotype relationships, neurogenetics, SCN9A variant, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/0daec7e7394a43038058216e60ae064b

Intrafamilial Phenotypic Variability Associated with the I1739V Mutation in the SCN9A Gene

Authors: Leema Reddy Peddareddygari, Raji P. Grewal

Source: Case Reports in Neurology, Vol 13, Iss 1, Pp 135-139 (2021)

Subject Terms: scn9a gene, neuropathy, phenotype variability, i1739v variant, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.karger.com/Article/FullText/513561; https://doaj.org/toc/1662-680X

Access URL: https://doaj.org/article/d3caf1d66d2c447aa114fc9f7876c2aa

A mini-review: Bridging the gap between autism spectrum disorder and pain comorbidities

Authors: Chad O. Brown, Jarryll Uy, Karun K. Singh

Source: Canadian Journal of Pain, Vol 4, Iss 4, Pp 37-44 (2020)

Subject Terms: autism spectrum disorder, scn9a, nav1.7, chronic pain, sensory, Medicine (General), R5-920, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://doaj.org/toc/2474-0527

Access URL: https://doaj.org/article/d0936ba66c694eaa8927dde8d37e8346

Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation – case report

Authors: Adam Stępień, Daria Sałacińska, Jacek Staszewski, Marta Durka-Kęsy, Jan Dobrogowski

Source: BMC Neurology, Vol 20, Iss 1, Pp 1-5 (2020)

Subject Terms: Paroxysmal extreme pain disorder, SCN9A gene mutation, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-020-01770-9; https://doaj.org/toc/1471-2377

Access URL: https://doaj.org/article/420c26899f5d4f518fc16f50baf1effb

The Human SCN9AR185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice

Authors: Yaping Xue, Mélanie Kremer, Maria del Mar Muniz Moreno, Celeste Chidiac, Romain Lorentz, Marie-Christine Birling, Michel Barrot, Yann Herault, Claire Gaveriaux-Ruff

Source: Frontiers in Molecular Neuroscience, Vol 15 (2022)

Subject Terms: SCN9A, sodium channel, nociception, pain, spontaneous pain, data analysis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.913990/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/a9d68c57df714df0b0e68beef9716d45

Effects of Intravenous Infusion of Lidocaine on Short-Term Outcomes and Survival in Patients Undergoing Surgery for Ovarian Cancer: A Retrospective Propensity Score Matching Study

Authors: Hao Zhang, Jiahui Gu, Mengdi Qu, Zhirong Sun, Qihong Huang, Juan P. Cata, Wankun Chen, Changhong Miao

Source: Frontiers in Oncology, Vol 11 (2022)

Subject Terms: lidocaine infusion, SCN9A, ovarian cancer, overall survival, disease-free survival, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2021.689832/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/15094230f32c4012b0140f5af9c99a03

Taxane-induced sensory peripheral neuropathy is associated with an SCN9A single nucleotide polymorphism in Japanese patients

Authors: Yuko Tanabe, Seiji Shiraishi, Kenji Hashimoto, Kazutaka Ikeda, Daisuke Nishizawa, Junko Hasegawa, Akihiko Shimomura, Yukinori Ozaki, Nobuko Tamura, Mayu Yunokawa, Kan Yonemori, Toshimi Takano, Hidetaka Kawabata, Kenji Tamura, Yasuhiro Fujiwara, Chikako Shimizu

Source: BMC Cancer, Vol 20, Iss 1, Pp 1-7 (2020)

Subject Terms: Breast and ovarian cancer, rs13017637, SCN9A, SCN10A, Taxane-induced peripheral neuropathy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12885-020-06834-0; https://doaj.org/toc/1471-2407

Access URL: https://doaj.org/article/f0550d61d10845b988866f542ddcb3ca

Association of small-fiber polyneuropathy with three previously unassociated rare missense SCN9A variants

Authors: Mary A. Kelley, Anne Louise Oaklander

Source: Canadian Journal of Pain, Vol 4, Iss 1, Pp 19-29 (2020)

Subject Terms: small fiber neuropathy, scn9a, peripheral neuropathy, genetic neuropathy, Medicine (General), R5-920, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://doaj.org/toc/2474-0527

Access URL: https://doaj.org/article/db93a06aeb6b48b2ad6520cbdfa4f40c

Influence of androgenic blockade with flutamide on pain behaviour and expression of the genes that encode the NaV1.7 and NaV1.8 voltage-dependent sodium channels in a rat model of postoperative pain

Authors: José Osvaldo Barbosa Neto, João Batista Santos Garcia, Maria do Socorro de Souza Cartágenes, Andressa Godoy Amaral, Luiz Fernando Onuchic, Hazem Adel Ashmawi

Source: Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-7 (2019)

Subject Terms: Postoperative pain, Gender influence, Testosterone, NAV1.7 and NAV1.8 voltage-gated sodium channels, Scn9a e Scn10a gene expression, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12967-019-2031-z; https://doaj.org/toc/1479-5876

Access URL: https://doaj.org/article/96e79d331e494b3f8381dd36a226e5be

Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain

Authors: Xiao-hui Xie, Jian-guang Tang, Zhong-hua Liu, Shui-jiao Peng, Zhuang-zhuang Yuan, Heng Gu, Yi-qiao Hu, Zhi-ping Tan

Source: Frontiers in Neuroscience, Vol 15 (2021)

Subject Terms: Charcot neuroarthropathy, bone destruction, joint destruction, congenital insensitivity to pain, SCN9A, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2021.697167/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/e6480ae44d00481a887e1dd06ceba59e