Results 161 to 170 of about 4,664 (202)

Diagnostic yield of clinical exome sequencing in patients with suspected hereditary neuropathy. [PDF]

Turk J Med Sci
Bekircan-Kurt CE, Arslan D, Güleray N, Erdem-Özdamar S, Balci-Hayta B, Tan E.   +5 more
europepmc   +1 more source

Congenital Insensitivity to Pain: A Case Study of a Rare Genetic Disorder. [PDF]

Cureus
Al-Hroub NN, Al-Salahat AA, Taamreh MA, Abunejma FM, Dukmak ON.   +4 more
europepmc   +1 more source

Carriers ofSCN9Avariants linked to inherited and acquired pain syndromes show no alteration in the prevalence of pain or analgesic usage in the UK Biobank cohort

Newton GW, Charman C, Nickerson AP, Phillips KG, Kless A, Dunham JP, Pickering AE.   +6 more
europepmc   +1 more source

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Association analysis of SCN9A gene variants with borderline personality disorder

Journal of Psychiatric Research, 2008
Borderline personality disorder (BPD) is a serious psychiatric disorder affecting about 1-2% of the general population. Key features of BPD are emotional instability, strong impulsivity, repeated self-injurious behavior (SIB) and dissociation. In the etiology of BPD and its predominant symptoms, genetic factors have been suggested.
André, Tadić, Omur, Baskaya, Anja, Victor, Klaus, Lieb, Wolfgang, Höppner, Norbert, Dahmen   +5 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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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
openaire   +2 more sources

Identification and characterization of the promoter region of the Nav1.7 voltage-gated sodium channel gene (SCN9A)

Molecular and Cellular Neuroscience, 2008
The Nav1.7 sodium channel plays an important role in pain and is also upregulated in prostate cancer. To investigate the mechanisms regulating physiological and pathophysiological Nav1.7 expression we identified the core promoter of this gene (SCN9A) in the human genome.
James K J, Diss, Mattia, Calissano, Duncan, Gascoyne, Mustafa B A, Djamgoz, David S, Latchman   +4 more
openaire   +2 more sources

Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases

Neurological Sciences, 2018
Up to now, SCN9A mutations encoding Nav1.7 have been limited to inherited pain syndromes. A few of pathogenic SCN9A mutations with or without SCN1A mutations have been identified in epileptic patients. Here, we report two heterozygous SCN9A mutations with no SCN1A mutations, which are associated with variable epilepsy phenotypes and explored the ...
Cuiwei Yang, Yi Hua, Weiqin Zhang, Jialu Xu, Lu Xu, Feng Gao, Peifang Jiang   +6 more
openaire   +2 more sources

Chronic non-paroxysmal neuropathic pain — Novel phenotype of mutation in the sodium channel SCN9A gene

Journal of the Neurological Sciences, 2011
Gain-of-function mutations in the SCN9A gene (encoding to NaV1.7 voltage-gated sodium channel) cause two rare paroxysmal pain disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEDP). These phenotypes are characterized by episodic extreme localized pain with cutaneous autonomic signs.
Ron, Dabby, Menachem, Sadeh, Ronit, Gilad, Yair, Lampl, Sarit, Cohen, Shani, Inbar, Esther, Leshinsky-Silver   +6 more
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Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+)

Seizure, 2021
To explore disease-causing gene mutations of epilepsy with febrile seizures plus (EFS+) in Southern Chinese Han population.Blood samples and clinical data were collected from 49 Southern Han Chinese patients with EFS+. Gene screening was performed using whole-exome sequencing and panel sequencing for 485 epilepsy-related genes.
Hongxia, Ma, Yuxiong, Guo, Zhihong, Chen, Lingan, Wang, Zhihong, Tang, Jingwen, Zhang, Qinfei, Miao, Qiongxiang, Zhai   +7 more
openaire   +2 more sources