Results 181 to 190 of about 5,273 (196)

A stop codon mutation in SCN9A causes lack of pain sensation

Human Molecular Genetics, 2007
The general lack of pain experience is a rare occurrence in humans, and the molecular causes for this phenotype are not well understood. Here we have studied a Canadian family from Newfoundland with members who exhibit a congenital inability to experience pain. We have mapped the locus to a 13.7 Mb region on chromosome 2q (2q24.3-2q31.1).
Sultan, Ahmad, Leif, Dahllund, Anders B, Eriksson, Dennis, Hellgren, Urban, Karlsson, Per-Eric, Lund, Inge A, Meijer, Luc, Meury, Tracy, Mills, Adrian, Moody, Anne, Morinville, John, Morten, Dajan, O'donnell, Carina, Raynoschek, Hugh, Salter, Guy A, Rouleau, Johannes J, Krupp   +16 more
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A sodium channel gene SCN9A polymorphism that increases nociceptor excitability

Annals of Neurology, 2009
AbstractSodium channel NaV1.7, encoded by the SCN9A gene, is preferentially expressed in nociceptive primary sensory neurons, where it amplifies small depolarizations. In studies on a family with inherited erythromelalgia associated with NaV1.7 gain‐of‐function mutation A863P, we identified a nonsynonymous single‐nucleotide polymorphism within SCN9A in
Mark, Estacion, T Patrick, Harty, Jin-Sung, Choi, Lynda, Tyrrell, Sulayman D, Dib-Hajj, Stephen G, Waxman   +5 more
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SCN9A and its natural antisense transcript

2011
Schmerz ist ein wesentlicher Bestandteil unseres Überlebens , er macht uns bewusst wo unsere körperlichen Limits liegen und schützt uns vor schädlichen Umwelteinflüssen . Schmerzen ,wie auch anderen somatosensorischen sub Modalitäten wie Sehen, Hoeren oder Geruch , eine Wahrnehmung, ein Produkt unseres Gehirns um externe Einfluesse zu verarbeiten und ...
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When adaptive processes go awry: gain‐of‐function in SCN9A

Clinical Genetics, 2007
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes
Fertleman et al.
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A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7

Current Molecular Medicine, 2018
Primary erythromelalgia (PE) is a dominant inherited disorder characterized by recurrent pain, redness, and warmth of the extremities that is caused by gain-of-function mutations in Nav1.7 encoding gene SCN9A. Most of the PE-causing mutations of Nav1.7 have been shown to be able to render Nav1.7-expressing cells hyperexcitable, however in most PE cases
B, Wu, Y, Zhang, H, Tang, M, Yang, H, Long, G, Shi, J, Tang, X, Shi   +7 more
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Severe case and literature review of primary erythromelalgia: Novel SCN9A gene mutation

Vascular Medicine, 2011
Erythromelalgia is a rare clinical syndrome characterized by intermittent heat, redness, swelling and pain more commonly affecting the lower extremities. Symptoms are mostly aggravated by warmth and are eased by a cold temperature. In some cases, symptoms can be very severe and disabling.
Nedaa, Skeik, Thom W, Rooke, Mark Denis P, Davis, Dawn Marie R, Davis, Henna, Kalsi, Ingo, Kurth, Randal C, Richardson   +6 more
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[Association between mutations of SCN9A gene and pain related to Parkinsonism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2013
To screening mutations of exons 15, 18 and 26 of sodium channel Nav1.7 (SCN9A) gene, and to assess its association with pain related to Parkinsonism.Respectively, 101 patients with primary Parkinson's disease (PD) and 104 similar-aged volunteers without PD were recruited from March, 2008 to January, 2011.
Li-mei, Zhang, Yong-qian, Chen, Wan-jun, Li, Wei, Sun, Yue, Huang, Hai-qiang, Zou   +5 more
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P38 Clinical pearl: pharmaceutical management of primary erythromelalgia (pe) (scn9a)

Archives of Disease in Childhood, 2018
SituationPatient RL is a 7 year old female with a confirmed genetic diagnosis for Primary Erythromelalgia PE, with a heterozygous sequence change in the SCN9A gene: c.2623C>G, p.(Gln875Glu). This genetic mutation of SCN9A results in sodium chanellopathy specifically for the voltage gated sodium channel Nav1.7.
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Mutation hotspots of SCN9A in primary erythermalgia

British Journal of Dermatology, 2007
L-L. Zhang, Z-M. Lin, Z-H. Ma, Z. Xu, Y-L. Yang, Y. Yang   +5 more
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No evidence that SCN9A variants are associated with epilepsy

Seizure, 2021
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