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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleGenetic testing in the epilepsies-Report of the ILAE Genetics Commissionpt_BR
dc.contributor.authorOttman, Rpt_BR
dc.contributor.authorHirose, Spt_BR
dc.contributor.authorJain, Spt_BR
dc.contributor.authorLerche, Hpt_BR
dc.contributor.authorLopes-Cendes, Ipt_BR
dc.contributor.authorNoebels, JLpt_BR
dc.contributor.authorSerratosa, Jpt_BR
dc.contributor.authorZara, Fpt_BR
dc.contributor.authorScheffer, IEpt_BR
unicamp.author.emailro6@columbia.edupt_BR
unicamp.authorOttman, Ruth Columbia Univ, Gertrude H Sergievsky Ctr, New York, NY 10027 USApt_BR
unicamp.authorOttman, Ruth Columbia Univ, Dept Epidemiol, New York, NY 10027 USApt_BR
unicamp.authorOttman, Ruth Columbia Univ, Dept Neurol, New York, NY 10027 USApt_BR
unicamp.authorOttman, Ruth New York State Psychiat Inst & Hosp, Div Epidemiol, New York, NY 10032 USApt_BR
unicamp.authorHirose, Shinichi Fukuoka Univ, Dept Pediat, Fukuoka 81401, Japanpt_BR
unicamp.authorJain, Satish Indian Epilepsy Ctr, New Delhi, Indiapt_BR
unicamp.authorLerche, Holger Univ Ulm, Neurol Klin, Ulm, Germanypt_BR
unicamp.authorLerche, Holger Univ Ulm, Inst Angew Physiol, Ulm, Germanypt_BR
unicamp.authorLopes-Cendes, Iscia Univ Estadual Campinas, UNICAMP, Campinas, SP, Brazilpt_BR
unicamp.authorNoebels, Jeffrey L. Baylor Coll Med, Dept Neurol, Houston, TX 77030 USApt_BR
unicamp.authorSerratosa, Jose Univ Autonoma Madrid, Fdn Jimenez Diaz, Serv Neurol, Unidad Epilepsia, Madrid, Spainpt_BR
unicamp.authorZara, Federico Inst G Gaslini, Dept Pediat, Neurogenet Lab, Genoa, Italypt_BR
unicamp.authorScheffer, Ingrid E. Univ Melbourne, Dept Med & Paediat, Melbourne, Vic, Australiapt_BR
unicamp.authorScheffer, Ingrid E. Royal Childrens Hosp, Melbourne, Vic, Australiapt_BR
dc.subjectEpilepsypt_BR
dc.subjectSeizurespt_BR
dc.subjectGeneticspt_BR
dc.subjectGenetic testingpt_BR
dc.subjectSCN1Apt_BR
dc.subject.wosIdiopathic Generalized Epilepsypt_BR
dc.subject.wosSevere Myoclonic Epilepsypt_BR
dc.subject.wosChildhood Absence Epilepsypt_BR
dc.subject.wosFrontal-lobe Epilepsypt_BR
dc.subject.wosPotassium Channel Genept_BR
dc.subject.wosNeonatal-infantile Seizurespt_BR
dc.subject.wosDominant Partial Epilepsypt_BR
dc.subject.wosGlucose-transporter Glut1pt_BR
dc.subject.wosNeuronal Sodium-channelpt_BR
dc.subject.wosEpisodic Ataxia Type-1pt_BR
dc.description.abstractP>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.pt
dc.relation.ispartofEpilepsiapt_BR
dc.relation.ispartofabbreviationEpilepsiapt_BR
dc.publisher.cityMaldenpt_BR
dc.publisher.countryEUApt_BR
dc.publisherWiley-blackwell Publishing, Incpt_BR
dc.date.issued2010pt_BR
dc.date.monthofcirculationAPRpt_BR
dc.identifier.citationEpilepsia. Wiley-blackwell Publishing, Inc, v. 51, n. 4, n. 655, n. 670, 2010.pt_BR
dc.language.isoenpt_BR
dc.description.volume51pt_BR
dc.description.issuenumber4pt_BR
dc.description.initialpage655pt_BR
dc.description.lastpage670pt_BR
dc.rightsfechadopt_BR
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.htmlpt_BR
dc.sourceWeb of Sciencept_BR
unicamp.cruespUSPpt_BR
dc.identifier.issn0013-9580pt_BR
dc.identifier.wosidWOS:000276245600019pt_BR
dc.identifier.doi10.1111/j.1528-1167.2009.02429.xpt_BR
dc.date.available2014-11-13T15:38:58Z
dc.date.available2015-11-26T18:07:56Z-
dc.date.accessioned2014-11-13T15:38:58Z
dc.date.accessioned2015-11-26T18:07:56Z-
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dc.description.provenanceMade available in DSpace on 2015-11-26T18:07:56Z (GMT). No. of bitstreams: 2 WOS000276245600019.pdf: 166173 bytes, checksum: c9f64e1c21ab421497b8d9ca7a50a1d5 (MD5) WOS000276245600019.pdf.txt: 90425 bytes, checksum: 44f0473483b70ac353da65f4fd344f51 (MD5) Previous issue date: 2010en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/67937pt_BR
dc.identifier.urihttp://www.repositorio.unicamp.br/handle/REPOSIP/67937
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/67937-
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