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Title: Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.
Austin Authors: Sadleir, Lynette G;de Valles-Ibáñez, Guillem;King, Chontelle;Coleman, Matthew;Mossman, Stuart;Paterson, Sarah;Nguyen, John;Berkovic, Samuel F ;Mullen, Saul A ;Bahlo, Melanie;Hildebrand, Michael S ;Mefford, Heather C;Scheffer, Ingrid E 
Affiliation: Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand
Department of Neurology, Wellington Hospital, Capital and Coast District Health Board, Wellington, New Zealand
Murdoch Children's Research Institute, Parkville, Victoria, Australia
Departments of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia
Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia
Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia
Epilepsy Research Centre
Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington..
Medicine (University of Melbourne)
Issue Date: Apr-2020
Date: 2020-03-12
Publication information: Epilepsia 2020; 61(4): e23-e29
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.
DOI: 10.1111/epi.16475
ORCID: 0000-0002-5355-7115
Journal: Epilepsia
PubMed URL: 32162308
Type: Journal Article
Subjects: GGE
intellectual disability
retinoid-related orphan receptor β
Appears in Collections:Journal articles

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