Genetic testing in the epilepsies-Report of the ILAE Genetics Commission

dc.creatorOttman, R
dc.creatorHirose, S
dc.creatorJain, S
dc.creatorLerche, H
dc.creatorLopes-Cendes, I
dc.creatorNoebels, JL
dc.creatorSerratosa, J
dc.creatorZara, F
dc.creatorScheffer, IE
dc.date2010
dc.dateAPR
dc.date2014-11-13T15:38:58Z
dc.date2015-11-26T18:07:56Z
dc.date2014-11-13T15:38:58Z
dc.date2015-11-26T18:07:56Z
dc.date.accessioned2018-03-29T00:50:03Z
dc.date.available2018-03-29T00:50:03Z
dc.identifierEpilepsia. Wiley-blackwell Publishing, Inc, v. 51, n. 4, n. 655, n. 670, 2010.
dc.identifier0013-9580
dc.identifierWOS:000276245600019
dc.identifier10.1111/j.1528-1167.2009.02429.x
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/67937
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/67937
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/67937
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1293705
dc.descriptionP>In this report, the International League Against Epilepsy (ILAE) Genetics Commission discusses essential issues to be considered with regard to clinical genetic testing in the epilepsies. Genetic research on the epilepsies has led to the identification of more than 20 genes with a major effect on susceptibility to idiopathic epilepsies. The most important potential clinical application of these discoveries is genetic testing: the use of genetic information, either to clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk because of a family history (predictive testing). Although genetic testing has many potential benefits, it also has potential harms, and assessment of these potential benefits and harms in particular situations is complex. Moreover, many treating clinicians are unfamiliar with the types of tests available, how to access them, how to decide whether they should be offered, and what measures should be used to maximize benefit and minimize harm to their patients. Because the field is moving rapidly, with new information emerging practically every day, we present a framework for considering the clinical utility of genetic testing that can be applied to many different syndromes and clinical contexts. Given the current state of knowledge, genetic testing has high clinical utility in few clinical contexts, but in some of these it carries implications for daily clinical practice.
dc.description51
dc.description4
dc.description655
dc.description670
dc.languageen
dc.publisherWiley-blackwell Publishing, Inc
dc.publisherMalden
dc.publisherEUA
dc.relationEpilepsia
dc.relationEpilepsia
dc.rightsfechado
dc.rightshttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.sourceWeb of Science
dc.subjectEpilepsy
dc.subjectSeizures
dc.subjectGenetics
dc.subjectGenetic testing
dc.subjectSCN1A
dc.subjectIdiopathic Generalized Epilepsy
dc.subjectSevere Myoclonic Epilepsy
dc.subjectChildhood Absence Epilepsy
dc.subjectFrontal-lobe Epilepsy
dc.subjectPotassium Channel Gene
dc.subjectNeonatal-infantile Seizures
dc.subjectDominant Partial Epilepsy
dc.subjectGlucose-transporter Glut1
dc.subjectNeuronal Sodium-channel
dc.subjectEpisodic Ataxia Type-1
dc.titleGenetic testing in the epilepsies-Report of the ILAE Genetics Commission
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución