{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T09:57:42Z","timestamp":1787738262116,"version":"build-2784847793"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T00:00:00Z","timestamp":1583971200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001505","name":"Health Research Council of New Zealand","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001505","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Cure Kids New Zealand"},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ted and Mollie Carr Endowment Trust"},{"name":"Victorian Government's Operational Infrastructure Support Program"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Variants in <jats:italic>RORB<\/jats:italic> have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel <jats:italic>RORB<\/jats:italic> variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from <jats:italic>RORB<\/jats:italic> screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n\u00a0=\u00a01021), overlap of generalized and occipital epilepsy (n\u00a0=\u00a084), and photosensitivity (n\u00a0=\u00a0123). Following interviews and review of medical records, individuals' seizure and epilepsy syndromes were classified. Three novel missense variants and one exon 3 deletion were predicted to be pathogenic by in silico tools, not found in population databases, and located in key evolutionary conserved domains. Median age at seizure onset was 3.5\u00a0years (0.5\u201010\u00a0years). Generalized, predominantly absence and myoclonic, and occipital seizures were seen in all families, often within the same individual (6\/11). All individuals with epilepsy were photosensitive, and seven of 11 had cognitive abnormalities. Electroencephalograms showed generalized spike and wave and\/or polyspike and wave. Here we show a striking <jats:italic>RORB<\/jats:italic> phenotype of overlap of photosensitive generalized and occipital epilepsy in both individuals and families. This is the first report of a gene associated with this overlap of epilepsy syndromes.<\/jats:p>","DOI":"10.1111\/epi.16475","type":"journal-article","created":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T07:23:38Z","timestamp":1583997818000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Inherited <i>RORB<\/i> pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy"],"prefix":"10.1111","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5355-7115","authenticated-orcid":false,"given":"Lynette G.","family":"Sadleir","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Child Health University of Otago Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6242-4306","authenticated-orcid":false,"given":"Guillem","family":"de Valles\u2010Ib\u00e1\u00f1ez","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health University of Otago Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chontelle","family":"King","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health University of Otago Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Coleman","sequence":"additional","affiliation":[{"name":"Department of Medicine Epilepsy Research Centre Austin Health University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart","family":"Mossman","sequence":"additional","affiliation":[{"name":"Department of Neurology Wellington Hospital Capital and Coast District Health Board Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Paterson","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health University of Otago Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4580-841X","authenticated-orcid":false,"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Department of Medicine Epilepsy Research Centre Austin Health University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saul","family":"Mullen","sequence":"additional","affiliation":[{"name":"Department of Medicine Epilepsy Research Centre Austin Health University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5132-0774","authenticated-orcid":false,"given":"Melanie","family":"Bahlo","sequence":"additional","affiliation":[{"name":"Population Health and Immunity Division Walter and Eliza Hall Institute of Medical Research Parkville Victoria Australia"},{"name":"Department of Medical Biology University of Melbourne Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S.","family":"Hildebrand","sequence":"additional","affiliation":[{"name":"Department of Medicine Epilepsy Research Centre Austin Health University of Melbourne Melbourne Victoria Australia"},{"name":"Murdoch Children\u2019s Research Institute Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather C.","family":"Mefford","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Department of Medicine Epilepsy Research Centre Austin Health University of Melbourne Melbourne Victoria Australia"},{"name":"Murdoch Children\u2019s Research Institute Parkville Victoria Australia"},{"name":"Florey Institute of Neuroscience and Mental Health Melbourne Victoria Australia"},{"name":"Departments of Paediatrics Austin Health and Royal Children's Hospital University of Melbourne Melbourne Victoria 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