biostudies-literatureCampbell CNHGRI NIH HHSNINDS NIH HHSWellcome Trust104098https://www.ebi.ac.uk/biostudies/studies/S-EPMC9188960biostudies-literatureUnknown81<h4>Background</h4>The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies which co-present with developmental delay and intellectual disability (ID). DEEs usually occur in people without a family history of epilepsy and have emerged as primarily monogenic, with damaging rare mutations found in 50% of patients. Little is known about the genetic architecture of patients with DEEs in whom no pathogenic variant is identified. Polygenic risk scoring (PRS) is a method that measures a person's common genetic burden for a trait or condition. Here, we used PRS to test whether genetic burden for epilepsy is relevant in individuals with DEEs, and other forms of epilepsy with ID.<h4>Methods</h4>Genetic data on 2,759 cases with DEEs, or epilepsy with ID presumedEBioMedicineThe role of common genetic variation in presumed monogenic epilepsies.PMC9188960U01 HG009088K23 NS121520UM1 HG008895Leu CLal DEpi4K CollaborativeCavalleri GLBenson KSisodiya SGanesan SMinassian BAFeng YABoothman IGenomics England Research ConsortiumScheffer IECosette PMoreau CGirard SDelanty NHamdan FFWolking SEllis CBrody LMolloy ALerche HEpi25 CollaborativeCampbell CMichaud JLMartins HOliver KfalseThe role of common genetic variation in presumed monogenic epilepsies.<h4>Background</h4>The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies which co-present with developmental delay and intellectual disability (ID). DEEs usually occur in people without a family history of epilepsy and have emerged as primarily monogenic, with damaging rare mutations found in 50% of patients. Little is known about the genetic architecture of patients with DEEs in whom no pathogenic variant is identified. Polygenic risk scoring (PRS) is a method that measures a person's common genetic burden for a trait or condition. Here, we used PRS to test whether genetic burden for epilepsy is relevant in individuals with DEEs, and other forms of epilepsy with ID.<h4>Methods</h4>Genetic data on 2,759 cases with DEEs, or epilepsy with ID presumed2022-01-01T00:00:00Z2022 Jul2025-04-25T18:11:47.754Z2025-04-25T18:11:47.754ZS-EPMC91889603567980110.1016/j.ebiom.2022.104098