Results 111 to 120 of about 4,664 (202)

SCN9A channelopathy associated autosomal recessive Congenital Indifference to Pain : a case report

, 2017
Background: Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities.
Cauwels, Rita, Domingues, Luciana, Martens, Luc, Rajasekharan, Sivaprakash   +3 more
core   +1 more source

Macrophage-derived insulin-like growth factor-1 is a key neurotrophic and nerve-sensitizing factor in pain associated with endometriosis [PDF]

, 2019
Endometriosis is a common incurable inflammatory disorder that is associated with debilitating pelvic pain in women. Macrophages are central to the pathophysiology of endometriosis: they dictate the growth and vascularization of endometriosis lesions and
Dorning, Ashley, Forster, Rachel, Greaves, Erin, Hogg, Chloe, Horne, Andrew W., Sarginson, Alexandra, Saunders, Philippa, Velichkova, Atanaska   +7 more
core   +3 more sources

Single nucleotide variants of MBD5 in two cases of children with mutations in the sodium channel gene SCN1A and SCN9A and a review of the literature

Annales Academiae Medicae Silesiensis
Genetic factors, especially polymorphisms being a consequence of mutations in the genome, are of great importance in the etiology of drug-resistant types of epilepsy.
Patrycja Rozwadowska-Kunecka , Małgorzata Rodak, Justyna Paprocka   +2 more
doaj   +1 more source

Compreensão da dor: O melhor tratamento para doentes com dor [PDF]

, 2013
A dor é uma das principais razões que levam as pessoas à procura dos profissionais de saúde e por não ser devidamente tratada, causa enormes custos aos sistemas de saúde, perda de produtividade e diminuição da capacidade de trabalho.
Lopes, Kevin Patrício Fortes
core  

Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus [PDF]

Seizure, 2017
Zhidong, Cen, Yuting, Lou, Yufan, Guo, Jianda, Wang, Jianhua, Feng   +4 more
openaire   +2 more sources

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. [PDF]

, 2019
BACKGROUND:Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor ...
Amini, Hajar, Chow, Julie, Girirajan, Santhosh, Hormozdiari, Farhad, Hormozdiari, Fereydoun, Jensen, Matthew, Penn, Osnat, Shifman, Sagiv   +7 more
core  

Charcot ankle, congenital insensitivity to pain and a mutation in the SCN9A gene

QJM: An International Journal of Medicine, 2022
Z Chen, H Zhang, S -M Dai
openaire   +2 more sources

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 [PDF]

, 2017
Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared
Avanzini, Giuliano, Balschun, Tobias, Baulac, Stephanie, Baykan, Betul, Bebek, Nerses, Becker, Felicitas, Becker, Tim, Bellows, Susannah, Berkovic, Samuel F., Bianchi, Amedeo, Caglayan, Hande, Capovilla, Giuseppe, Crichiutti, Giovanni, de Haan, Gerrit-Jan, De Jonghe, Peter, de Kovel, Carolien G.F., Dibbens, Leanne M., Elger, Christian E., Ellinghaus, David, Everett, Kate V., Feucht, Martha, Franke, Andre, Gambardella, Antonio, Gardiner, Mark R., Gaus, Verena, Gieger, Christian, Guerrero, Rosa, Guerrini, Renzo, Guipponi, Michel, Helbig, Ingo, Hempelmann, Anne, Hjalgrim, Helle, Janz, Dieter, Jordanova, Albena, Kapser, Claudia, Kasteleijn-Nolst Trenité, Dorothée, Kleefuß-Lie, Ailing A., Koeleman, Bobby P.C., Kunz, Wolfram S., La Neve, Angela, Leber, Markus, Leguern, Eric, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lindhout, Dick, Malafosse, Alain, Marini, Carla, Meesters, Christian, Muhle, Hiltrud, Mullen, Saul, Mörzinger, Martina, Møller, Rikke S., Nabbout, Rima, Nürnberg, Peter, Oliver, Karen, Ostertag, Philipp, Ozbek, Ugur, Pauck, Steffen M., Reif, Philipp S., Robbiano, Angela, Rosenow, Felix, Ruppert, Ann-Kathrin, Rüschendorf, Franz, Sander, Thomas, Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schulz, Herbert, Serratosa, Jose M., Siren, Auli, Smets, Katrin, Steffens, Michael, Steinhoff, Bernhard J., Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Surges, Rainer, Thomas, Pierre, Tinuper, Paolo, Toliat, Mohammad R., Trucks, Holger, von Spiczak, Sarah, Weber, Yvonne G., Wichmann, Heinz-Erich, Wienker, Thomas F., Yalcin, Destina A., Yapici, Zuhal, Zara, Federico, Zimprich, Fritz   +89 more
core  

Regularization for Cox's proportional hazards model with NP-dimensionality

, 2012
High throughput genetic sequencing arrays with thousands of measurements per sample and a great amount of related censored clinical data have increased demanding need for better measurement specific model selection.
Bradic, Jelena, Fan, Jianqing, Jiang, Jiancheng   +2 more
core   +1 more source

Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation

Journal of Pain Research, 2017
Sarah A Low,1 Wendye Robbins,2,3 Vivianne L Tawfik2 1Department of Internal Medicine, Banner University Medical Center, University of Arizona College of Medicine, Tucson, AZ, 2Department of Anesthesiology, Perioperative & Pain Medicine, Stanford ...
Low SA, Robbins W, Tawfik VL
doaj