{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Campbell C"],"funding":["NHGRI NIH HHS","NINDS NIH HHS","Wellcome Trust"],"pagination":["104098"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9188960"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["81"],"pubmed_abstract":["Background
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.Methods
Genetic data on 2,759 cases with DEEs, or epilepsy with ID presumed"],"journal":["EBioMedicine"],"pubmed_title":["The role of common genetic variation in presumed monogenic epilepsies."],"pmcid":["PMC9188960"],"funding_grant_id":["U01 HG009088","K23 NS121520","UM1 HG008895"],"pubmed_authors":["Leu C","Lal D","Epi4K Collaborative","Cavalleri GL","Benson K","Sisodiya S","Ganesan S","Minassian BA","Feng YA","Boothman I","Genomics England Research Consortium","Scheffer IE","Cosette P","Moreau C","Girard S","Delanty N","Hamdan FF","Wolking S","Ellis C","Brody L","Molloy A","Lerche H","Epi25 Collaborative","Campbell C","Michaud JL","Martins H","Oliver K"],"additional_accession":[]},"is_claimable":false,"name":"The role of common genetic variation in presumed monogenic epilepsies.","description":"Background
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.Methods
Genetic data on 2,759 cases with DEEs, or epilepsy with ID presumed","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jul","modification":"2025-04-25T18:11:47.754Z","creation":"2025-04-25T18:11:47.754Z"},"accession":"S-EPMC9188960","cross_references":{"pubmed":["35679801"],"doi":["10.1016/j.ebiom.2022.104098"]}}