{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:37:54Z","timestamp":1790797074376,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,20]],"date-time":"2017-12-20T00:00:00Z","timestamp":1513728000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["628952"],"award-info":[{"award-number":["628952"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["437027"],"award-info":[{"award-number":["437027"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT1032364"],"award-info":[{"award-number":["GNT1032364"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2018,2]]},"abstract":"Summary<\/jats:title>Objective<\/jats:title>To investigate the significance of variation in ADGRV<\/jats:styled-content>1<\/jats:italic> (also known as GPR<\/jats:styled-content>98<\/jats:italic>, MASS<\/jats:styled-content>1<\/jats:italic>, and VLGR<\/jats:styled-content>1<\/jats:italic>), MEF<\/jats:styled-content>2C<\/jats:italic>, and other genes at the 5q14.3 chromosomal locus in myoclonic epilepsy.<\/jats:p><\/jats:sec>Methods<\/jats:title>We studied the epilepsy phenotypes of 4 individuals with 5q14.3 deletion and found that all had myoclonic seizures. We then screened 6 contiguous genes at 5q14.3, MEF<\/jats:styled-content>2C, CETN<\/jats:styled-content>3<\/jats:italic>, MBLAC<\/jats:styled-content>2<\/jats:italic>, POLR<\/jats:styled-content>3G<\/jats:italic>, LYSMD<\/jats:styled-content>3<\/jats:italic>, and ADGRV<\/jats:styled-content>1<\/jats:italic>, in a 95\u2010patient cohort with epilepsy and myoclonic seizures. Of these genes, point mutations in MEF<\/jats:styled-content>2C<\/jats:italic> cause a phenotype involving seizures and intellectual disability. A role for ADGRV<\/jats:styled-content>1<\/jats:italic> in epilepsy has been proposed previously, based on a recessive mutation in the Frings mouse model of audiogenic seizures, as well as a shared homologous region with another epilepsy gene, LGI<\/jats:styled-content>1<\/jats:italic>.<\/jats:p><\/jats:sec>Results<\/jats:title>Six patients from the myoclonic epilepsy cohort had likely pathogenic ultra\u2010rare ADGRV<\/jats:styled-content>1<\/jats:italic> variants, and statistical analysis showed that ultra\u2010rare variants were significantly overrepresented when compared to healthy population data from the Genome Aggregation Database. Of the remaining genes, no definite pathogenic variants were identified.<\/jats:p><\/jats:sec>Significance<\/jats:title>Our data suggest that the ADGRV<\/jats:styled-content>1<\/jats:italic> variation contributes to epilepsy with myoclonic seizures, although the inheritance pattern may be complex in many cases. In patients with 5q14.3 deletion and epilepsy, ADGRV<\/jats:styled-content>1<\/jats:italic> haploinsufficiency likely contributes to seizure development. The latter is a shift from current thinking, as MEF<\/jats:styled-content>2C<\/jats:italic> haploinsufficiency has been considered the main cause of epilepsy in 5q14.3 deletion syndrome. In cases of 5q14.3 deletion and epilepsy, seizures likely occur due to haploinsufficiency of one or both of ADGRV<\/jats:styled-content>1<\/jats:italic> and MEF<\/jats:styled-content>2C<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.13980","type":"journal-article","created":{"date-parts":[[2017,12,21]],"date-time":"2017-12-21T05:06:42Z","timestamp":1513832802000},"page":"381-388","source":"Crossref","is-referenced-by-count":55,"title":["ADGRV1<\/i> is implicated in myoclonic epilepsy"],"prefix":"10.1111","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7831-4593","authenticated-orcid":false,"given":"Kenneth A.","family":"Myers","sequence":"first","affiliation":[{"name":"Department of Medicine Epilepsy Research Centre University of Melbourne Austin Health Heidelberg Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Nasioulas","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Melbourne Parkville Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"Boys","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Melbourne Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinta M.","family":"McMahon","sequence":"additional","affiliation":[{"name":"Department of Medicine Epilepsy Research Centre University of Melbourne Austin Health Heidelberg Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard","family":"Slater","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Melbourne Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Lockhart","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Melbourne Parkville Vic. Australia"},{"name":"Bruce Lefroy Centre for Genetic Health Research Murdoch Childrens Research Institute Royal Children's Hospital Parkville Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desir\u00e9e du","family":"Sart","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Melbourne Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Department of Medicine Epilepsy Research Centre University of Melbourne Austin Health Heidelberg Vic. Australia"},{"name":"Department of Paediatrics University of Melbourne Parkville Vic. Australia"},{"name":"The Florey Institute of Neuroscience and Mental Health Heidelberg Vic. Australia"},{"name":"Department of Neurology Royal Children's Hospital Parkville Vic. 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