Please use this identifier to cite or link to this item:
https://ahro.austin.org.au/austinjspui/handle/1/22790
Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Sadleir, Lynette G | - |
dc.contributor.author | de Valles-Ibáñez, Guillem | - |
dc.contributor.author | King, Chontelle | - |
dc.contributor.author | Coleman, Matthew J | - |
dc.contributor.author | Mossman, Stuart | - |
dc.contributor.author | Paterson, Sarah | - |
dc.contributor.author | Nguyen, John | - |
dc.contributor.author | Berkovic, Samuel F | - |
dc.contributor.author | Mullen, Saul | - |
dc.contributor.author | Bahlo, Melanie | - |
dc.contributor.author | Hildebrand, Michael S | - |
dc.contributor.author | Mefford, Heather C | - |
dc.contributor.author | Scheffer, Ingrid E | - |
dc.date | 2020-03-12 | - |
dc.date.accessioned | 2020-03-16T23:02:01Z | - |
dc.date.available | 2020-03-16T23:02:01Z | - |
dc.date.issued | 2020-04 | - |
dc.identifier.citation | Epilepsia 2020; 61(4): e23-e29 | - |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/22790 | - |
dc.description.abstract | Variants in RORB 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 RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n = 1021), overlap of generalized and occipital epilepsy (n = 84), and photosensitivity (n = 123). 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 years (0.5-10 years). 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 RORB 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. | - |
dc.language.iso | eng | - |
dc.subject | GGE | - |
dc.subject | IPOE | - |
dc.subject | intellectual disability | - |
dc.subject | photosensitivity | - |
dc.subject | retinoid-related orphan receptor β | - |
dc.title | Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy. | - |
dc.type | Journal Article | en_US |
dc.identifier.journaltitle | Epilepsia | - |
dc.identifier.affiliation | Department of Neurology, Wellington Hospital, Capital and Coast District Health Board, Wellington, New Zealand | en |
dc.identifier.affiliation | Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia | en |
dc.identifier.affiliation | Department of Paediatrics, Austin Health, Heidelberg, Victoria, Australia | en |
dc.identifier.affiliation | Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia | en |
dc.identifier.affiliation | Murdoch Children's Research Institute, Parkville, Victoria, Australia | en |
dc.identifier.affiliation | Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia | en |
dc.identifier.affiliation | Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia | en |
dc.identifier.affiliation | Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia | en |
dc.identifier.affiliation | Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand | en |
dc.identifier.affiliation | Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.. | - |
dc.identifier.doi | 10.1111/epi.16475 | - |
dc.type.content | Text | en_US |
dc.identifier.orcid | 0000-0002-5355-7115 | - |
dc.identifier.orcid | 0000-0001-5132-0774 | en |
dc.identifier.orcid | 0000-0003-2739-0515 | en |
dc.identifier.orcid | 0000-0002-2311-2174 | en |
dc.identifier.orcid | 0000-0002-6242-4306 | - |
dc.identifier.orcid | 0000-0003-4580-841X | - |
dc.identifier.pubmedid | 32162308 | - |
dc.type.austin | Journal Article | - |
local.name.researcher | Berkovic, Samuel F | |
item.grantfulltext | none | - |
item.openairetype | Journal Article | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | No Fulltext | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Neurology | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Medicine (University of Melbourne) | - |
crisitem.author.dept | Epilepsy Research Centre | - |
Appears in Collections: | Journal articles |
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