Results 1 to 10 of about 4,664 (202)

Intrafamilial Phenotypic Variability Associated with the I1739V Mutation in the SCN9A Gene [PDF]

Case Reports in Neurology, 2021
The SCN9A gene encodes a voltage gated sodium channel Nav1.7 in which mutations can result in a wide variety of phenotypes ranging from congenital insensitivity to pain to small fiber neuropathy.
Leema Reddy Peddareddygari, Raji P. Grewal   +1 more
doaj   +5 more sources

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

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   +4 more sources

Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients [PDF]

Acta Dermato-Venereologica
Gain-of-function variants in the voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, have previously been identified in patients with erythromelalgia, a clinical diagnosis defined by intermittent attacks of painful, hot, swollen, and red skin,
Mari Skystad Kvernebo, Celene Grayson, Ioannis M. Stylianou, Virginia Woloshen, Christopher Radomski, Cato Mørk, Knut Kvernebo   +6 more
doaj   +4 more sources

Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene. [PDF]

PLoS ONE
Single nucleotide polymorphisms are the most common form of DNA alterations at the level of a single nucleotide in the genomic sequence. Genome-wide association studies (GWAS) were carried to identify potential risk genes or genomic regions by screening ...
Sana Waheed, Kainat Ramzan, Sibtain Ahmad, Muhammad Saleem Khan, Muhammad Wajid, Hayat Ullah, Ali Umar, Rashid Iqbal, Riaz Ullah, Ahmed Bari   +9 more
doaj   +4 more sources

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

BMC Neurology, 2020
Background To describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G > T (p.Val1298Phe) in the SCN9A gene. Clinical examinations and details
Adam Stępień, Daria Sałacińska, Jacek Staszewski, Marta Durka-Kęsy, Jan Dobrogowski   +4 more
doaj   +5 more sources

Correction: Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene. [PDF]

PLoS ONE
[This corrects the article DOI: 10.1371/journal.pone.0297367.].
Sana Waheed, Kainat Ramzan, Sibtain Ahmad, Muhammad Saleem Khan, Muhammad Wajid, Hayat Ullah, Ali Umar, Rashid Iqbal, Riaz Ullah, Ahmed Bari   +9 more
doaj   +6 more sources

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 [PDF]

Вавиловский журнал генетики и селекции
In this work, we for the first time performed a comprehensive bioinformatics analysis of 568 human genes that, according to the NCBI Gene database as on September 15, 2024, were associated with pain generation, perception and anesthesia.
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   +8 more
doaj   +4 more sources

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

Frontiers in Neurology
IntroductionPain is an unpleasant sensory and emotional experience, influenced by various factors. Paroxysmal extreme pain disorder (PEPD) is a rare genetic condition characterized by sudden bouts of pain accompanied by autonomic symptoms.Material ...
Mateusz Szczupak, Jolanta Wierzchowska, Maria Cimoszko-Zauliczna, Jacek Kobak, Justyna Kosydar-Bochenek, Wojciech Radys, Agnieszka Szlagatys-Sidorkiewicz, Dorota Religa, Sabina Krupa-Nurcek   +8 more
doaj   +4 more sources

Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene. [PDF]

Neurol Genet, 2021
Erythromelalgia is a rare pain syndrome caused by gain-of-function mutations of the SCN9A gene. The gene encodes Nav1.7 channels, preferentially located in the sympathetic ganglia and nociceptive sensory neurons of the dorsal root ganglia (DRG),1 that play a key role in pain modulation.2 DRG hyperexcitability leads to decreased pain threshold and ...
Nwebube C, Bulancea S, Marchidann A, Bello-Espinosa L, Treidler S.   +4 more
europepmc   +4 more sources

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. [PDF]

PLoS Genetics, 2009
A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS) gene, SCN9A encoding Na(v)1.7.
Nanda A Singh, Chris Pappas, E Jill Dahle, Lieve R F Claes, Timothy H Pruess, Peter De Jonghe, Joel Thompson, Missy Dixon, Christina Gurnett, Andy Peiffer, H Steve White, Francis Filloux, Mark F Leppert   +12 more
doaj   +6 more sources