biostudies-literatureUnknown79(12)McKnight D<h4>Importance</h4>It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.<h4>Objective</h4>To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.<h4>Design, setting, and participants</h4>This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. CaJAMA neurology1267-1276https://www.ebi.ac.uk/biostudies/studies/S-EPMC9623482biostudies-literatureGenetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.PMC9623482Monroy-Santoyo SMeibos BFelix TMParachuri VGCarson RPChernuha VAliu ENussbaum RLHassan MJZiobro JSchatz KPlaza LHurst ACEPavliuk MRios-Pohl LMegarbane ARaza MDao JMFulton SHumberson JBSeinfeld SSmith DMSilva SMurphy AMachie MBear JJJacobson MKanhangad MMcKnight DBorlot FVenegas VParikh Sde Montellano DJDLora EGBenitez Alonso EOHabela CWPalmquist RChagnon SLHwang STZarroli KBerg ATKellogg MAKulasa-Luke DWong KPisani LEspinoza ACSvystilnyk VSoler-Alfonso CBurke RJOstrander BChari GDuenas-Roque MMShiloh-Malawsky YEschbach KBonkowsky JLFalchek SChavda DELEVIATE ConsortiumTreat LCandee MSPerry MSStetsenko TMontiel Blanco JDNechai AMorales AHammond KCFreeman JLMalets MHatchell KELay-Son GCostin CEAradhya SBoyarchuk OGonzalez-Giraldo ETrasmonte JBupp CPRojas Carrion MDStarks ASweney MTWilson CARyan MMReyes-Silva CALuke RRMassingham LJRodriguez-Vazquez NNelson GRGuzman GGFahey MCMuller EPress CAAngione KWheless JWKarkare SNolan DABristow SLMoretz CMiroshnikov OPark KLJiang HKalika PMLupo PMohamed ISMarsh EDAmlie-Wolf LLevy RJChirita-Emandi ABoutlier SBPedersen RCGuerra PMu WVan Orman CBZuccarelli BFilloux FMKammeyer RArain AMEsplin EDNolan MWeinstock AAssaf MJBurns KBatley KYAnanth ALHaldeman-Englert CRKumar ARamirez-Garcia MASogawa YfalseGenetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.<h4>Importance</h4>It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.<h4>Objective</h4>To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.<h4>Design, setting, and participants</h4>This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Ca2022-01-01T00:00:00Z2022 Dec2026-07-14T15:08:34.818Z2025-04-04T19:27:53.852ZS-EPMC96234823631513510.1001/jamaneurol.2022.3651