Results 21 to 30 of about 5,273 (196)

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

BMC Cancer, 2020
Background Sodium channels located in the dorsal root ganglion, particularly Nav1.7 and Nav1.8, encoded by SCN9A and SCN10A, respectively, act as molecular gatekeepers for pain detection.
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   +15 more
doaj   +1 more source

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

BMC Medical Genomics, 2022
Background Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant hereditary disease, characterized by paroxysmal burning pain in the rectum, eyes or mandible and autonomic nervous symptoms, including skin redness and bradycardia. PEPD is a
Yi Hua, Di Cui, Lin Han, Lu Xu, Shanshan Mao, Cuiwei Yang, Feng Gao, Zhefeng Yuan   +7 more
doaj   +1 more source

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

Dermatology Practical & Conceptual, 2023
Introduction: Primary erythromelalgia (EM) is a rare clinical syndrome characterized by recurrent erythema, burning pain and warmth of the extremities. The symptoms greatly compromise the patients' quality of life leading to severe disability.
Andrea Michelerio, Carlo Tomasini, Eloisa Arbustini, Camilla Vassallo   +3 more
doaj   +1 more source

Genetic epilepsy with febrile seizures plus (GEFS+)

Эпилепсия и пароксизмальные состояния, 2020
Febrile seizures (FS) occur in about 2–3% of children aged 3 months to 5 years. Atypical febrile seizures are those with a focal component. Each subsequent febrile attack increases the risk of transformation into epilepsy. After the third febrile seizure,
A. A. Sharkov
doaj   +1 more source

An SCN9A channelopathy causes congenital inability to experience pain [PDF]

Nature, 2006
The complete inability to sense pain in an otherwise healthy individual is a very rare phenotype. In three consanguineous families from northern Pakistan, we mapped the condition as an autosomal-recessive trait to chromosome 2q24.3. This region contains the gene SCN9A, encoding the alpha-subunit of the voltage-gated sodium channel, Na(v)1.7, which is ...
Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al Gazali L, Hamamy H, VALENTE, Enza Maria, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG   +18 more
openaire   +4 more sources

Pharmacogenetics of analgesic drugs [PDF]

, 2013
• Individual variability in pain perception and differences in the efficacy of analgesic drugs are complex phenomena and are partly genetically predetermined.
Branford, R, Cregg, R, Gubbay, A, Russo, G, Sato, H   +4 more
core   +1 more source

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]

Clin Case Rep
ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Pant S, Adhikari D, Pandey P, Bajracharya B, Sharma R.   +4 more
europepmc   +2 more sources

SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain

Journal of Veterinary Internal Medicine, 2023
Background Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSANs) are a rare group of genetic disorders causing inability to feel pain.
Rodrigo Gutierrez‐Quintana, Matthias Christen, Kiterie M. E. Faller, Julien Guevar, Vidhya Jagannathan, Tosso Leeb   +5 more
doaj   +1 more source

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

Frontiers in Neuroscience, 2021
Charcot neuroarthropathy is a systemic disease with pathological changes in the musculoskeletal system, which leads to fractures, dislocations, and deformities involving multiple bones and joints, particularly those of the feet.
Xiao-hui Xie, Jian-guang Tang, Zhong-hua Liu, Shui-jiao Peng, Zhuang-zhuang Yuan, Heng Gu, Yi-qiao Hu, Zhi-ping Tan   +7 more
doaj   +1 more source

Pain perception is altered by a nucleotide polymorphism in SCN9A [PDF]

Proceedings of the National Academy of Sciences, 2010
The gene SCN9A is responsible for three human pain disorders. Nonsense mutations cause a complete absence of pain, whereas activating mutations cause severe episodic pain in paroxysmal extreme pain disorder and primary erythermalgia.
Reimann, Frank, Cox, James J, Belfer, Inna, Diatchenko, Luda, Zaykin, Dmitri V, McHale, Duncan P, Drenth, Joost P H, Dai, Feng, Wheeler, Jerry, Sanders, Frances, Wood, Linda, Wu, Tian-Xia, Karppinen, Jaro, Nikolajsen, Lone, Männikkö, Minna, Max, Mitchell B, Kiselycznyk, Carly, Poddar, Minakshi, Te Morsche, Rene H M, Smith, Shad, Gibson, Dustin, Kelempisioti, Anthi, Maixner, William, Gribble, Fiona M, Woods, C Geoffrey   +24 more
openaire   +4 more sources