biostudies-literatureUnknown32(8)de Sainte Agathe JM<h4>Background</h4>Epileptic disorders are a heterogeneous group of neurological conditions, with many cases linked to monogenic causes, particularly in developmental and epileptic encephalopathies (DEE). Identifying pathogenic variants aids treatment, prognosis, and family planning. In France, genetic testing is coordinated through the EpiGene network.<h4>Methods</h4>We analyzed clinical and genetic data from 2563 epilepsy patients referred to four diagnostic labs (2016-2023). Epilepsy syndromes were classified via pre-test questionnaires, and genotyping used various gene panels, including a 68-gene core panel. Multivariate logistic regression assessed diagnostic rates and genotype-phenotype correlations.<h4>Results</h4>Overall, 27.0% of patients had pathogenic/likely pathogenic variants,European journal of neurologye70324https://www.ebi.ac.uk/biostudies/studies/S-EPMC12332890biostudies-literatureThe Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.PMC12332890Altuzarra CCamus CHBouazzaoui ADesnous BPerrin LGourfinkel-An IPoulat ALCarre WPortes VDHeron BLepine APanagiotakaki EStoeva RLarcher KMaurey HRemerand GMilh MRivier CEssid MJacquemont MLMignot CTardieu SNava CDubourg CBoucher ELesca GArnaud LChatron NFlurin VGuerrot AMSanlaville Dde Sainte Agathe JMVilleneuve NPasquier LJoriot SVillard LDozieres-Puyravel BRiccardi FNguyen SMonin PDoummar DNavarro VLeguern EDemurger FPiard JFradin MCanon MAuvin SFaoucher MOdent SJulia SSarret CVille DfalseThe Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.<h4>Background</h4>Epileptic disorders are a heterogeneous group of neurological conditions, with many cases linked to monogenic causes, particularly in developmental and epileptic encephalopathies (DEE). Identifying pathogenic variants aids treatment, prognosis, and family planning. In France, genetic testing is coordinated through the EpiGene network.<h4>Methods</h4>We analyzed clinical and genetic data from 2563 epilepsy patients referred to four diagnostic labs (2016-2023). Epilepsy syndromes were classified via pre-test questionnaires, and genotyping used various gene panels, including a 68-gene core panel. Multivariate logistic regression assessed diagnostic rates and genotype-phenotype correlations.<h4>Results</h4>Overall, 27.0% of patients had pathogenic/likely pathogenic variants,2025-01-01T00:00:00Z2025 Aug2026-04-15T19:20:01.705Z2026-04-07T14:00:49.989ZS-EPMC123328904077872910.1111/ene.70324