{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Epi4K Consortium"],"funding":["Howard Hughes Medical Institute","NINDS NIH HHS"],"pagination":["792-804"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10948303"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["65(3)"],"pubmed_abstract":["<h4>Objective</h4>Copy number variants (CNVs) contribute to genetic risk and genetic etiology of both rare and common epilepsies. Whereas many studies have explored the role of CNVs in sporadic or severe cases, fewer have been done in familial generalized and focal epilepsies.<h4>Methods</h4>We analyzed exome sequence data from 267 multiplex families and 859 first-degree relative pairs with a diagnosis of genetic generalized epilepsies or nonacquired focal epilepsies to predict CNVs. Validation and segregation studies were performed using an orthogonal method when possible.<h4>Results</h4>We identified CNVs likely to contribute to epilepsy risk or etiology in the probands of 43 of 1116 (3.9%) families, including known recurrent CNVs (16p13.11 deletion, 15q13.3 deletion, 15q11.2 deletion, 1"],"journal":["Epilepsia"],"pubmed_title":["The role of copy number variants in the genetic architecture of common familial epilepsies."],"pmcid":["PMC10948303"],"funding_grant_id":["U01 NS077303","U01 NS077367","K23 NS121520","U01 NS077274","U01 NS077275"],"pubmed_authors":["Devinsky O","Helmers S","Curtis SW","Smith PEM","Glynn S","Shellhaas RA","Crompton DE","Rees MI","Parent JM","Galey M","Burgess R","Cossette P","Wang T","Haas K","Consalvo D","Shih JJ","Scheffer IE","Berkovic SF","Harris RV","Widdess-Walsh P","Winawer MR","Oliver KL","Singh RK","Venkat A","Abou-Khalil B","Paterson SJ","Crumrine P","Delanty N","Heinzen EL","Paolicchi JM","Sadleir LG","Epstein MP","Sherr EH","Ottman R","Friedman D","Geller EB","Bautista JF","Dlugos D","Kuzniecky R","O'Brien TJ","Ellis CA","Knowlton RC","Miller DE","Mehaffey M","Gravel M","Petrovski S","Smith MC","Von Allmen GK","McGuire SM","Vining EPG","Haut S","Bellows ST","Fiol M","Goldstein DB","Amrom D","Park KL","Loeb R","Sullivan J","Marson AG","McCormack M","Afawi ZA","Epi4K Consortium","Chung SK","Kossoff E","Thio LL","Sulovari A","Weisenberg J","Glauser T","Andermann E","Henry OJ","Joshi S","Novotny EJ","McKenna K","Cascino GD","Kivity S","Bluvstein J","Pickrell WO","Sirven J","Nguyen J","Mullen SA","Shinnar S","Allen AS","Lowenstein DH","Poduri A","Kirsch HE","Eichler EE","Mefford HC","Boro A","Freyer C","Fountain NB","Thomas RH","Sperling MR","Motika PV"],"additional_accession":[]},"is_claimable":false,"name":"The role of copy number variants in the genetic architecture of common familial epilepsies.","description":"<h4>Objective</h4>Copy number variants (CNVs) contribute to genetic risk and genetic etiology of both rare and common epilepsies. Whereas many studies have explored the role of CNVs in sporadic or severe cases, fewer have been done in familial generalized and focal epilepsies.<h4>Methods</h4>We analyzed exome sequence data from 267 multiplex families and 859 first-degree relative pairs with a diagnosis of genetic generalized epilepsies or nonacquired focal epilepsies to predict CNVs. Validation and segregation studies were performed using an orthogonal method when possible.<h4>Results</h4>We identified CNVs likely to contribute to epilepsy risk or etiology in the probands of 43 of 1116 (3.9%) families, including known recurrent CNVs (16p13.11 deletion, 15q13.3 deletion, 15q11.2 deletion, 1","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-22T18:47:35.707Z","creation":"2025-04-06T02:36:17.234Z"},"accession":"S-EPMC10948303","cross_references":{"pubmed":["38101940"],"doi":["10.1111/epi.17860"]}}