{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["79(12)"],"submitter":["McKnight D"],"pubmed_abstract":["<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. Ca"],"journal":["JAMA neurology"],"pagination":["1267-1276"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9623482"],"repository":["biostudies-literature"],"pubmed_title":["Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice."],"pmcid":["PMC9623482"],"pubmed_authors":["Monroy-Santoyo S","Meibos B","Felix TM","Parachuri VG","Carson RP","Chernuha V","Aliu E","Nussbaum RL","Hassan MJ","Ziobro J","Schatz K","Plaza L","Hurst ACE","Pavliuk M","Rios-Pohl L","Megarbane A","Raza M","Dao JM","Fulton S","Humberson JB","Seinfeld S","Smith DM","Silva S","Murphy A","Machie M","Bear JJ","Jacobson M","Kanhangad M","McKnight D","Borlot F","Venegas V","Parikh S","de Montellano DJD","Lora EG","Benitez Alonso EO","Habela CW","Palmquist R","Chagnon SL","Hwang ST","Zarroli K","Berg AT","Kellogg MA","Kulasa-Luke D","Wong K","Pisani L","Espinoza AC","Svystilnyk V","Soler-Alfonso C","Burke RJ","Ostrander B","Chari G","Duenas-Roque MM","Shiloh-Malawsky Y","Eschbach K","Bonkowsky JL","Falchek S","Chavda D","ELEVIATE Consortium","Treat L","Candee MS","Perry MS","Stetsenko T","Montiel Blanco JD","Nechai A","Morales A","Hammond KC","Freeman JL","Malets M","Hatchell KE","Lay-Son G","Costin CE","Aradhya S","Boyarchuk O","Gonzalez-Giraldo E","Trasmonte J","Bupp CP","Rojas Carrion MD","Starks A","Sweney MT","Wilson CA","Ryan MM","Reyes-Silva CA","Luke RR","Massingham LJ","Rodriguez-Vazquez N","Nelson GR","Guzman GG","Fahey MC","Muller E","Press CA","Angione K","Wheless JW","Karkare S","Nolan DA","Bristow SL","Moretz C","Miroshnikov O","Park KL","Jiang H","Kalika PM","Lupo P","Mohamed IS","Marsh ED","Amlie-Wolf L","Levy RJ","Chirita-Emandi A","Boutlier SB","Pedersen RC","Guerra P","Mu W","Van Orman CB","Zuccarelli B","Filloux FM","Kammeyer R","Arain AM","Esplin ED","Nolan M","Weinstock A","Assaf MJ","Burns K","Batley KY","Ananth AL","Haldeman-Englert CR","Kumar A","Ramirez-Garcia MA","Sogawa Y"],"additional_accession":[]},"is_claimable":false,"name":"Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.","description":"<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. Ca","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2026-07-14T15:08:34.818Z","creation":"2025-04-04T19:27:53.852Z"},"accession":"S-EPMC9623482","cross_references":{"pubmed":["36315135"],"doi":["10.1001/jamaneurol.2022.3651"]}}