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Title: Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.
Austin Authors: Myers, Kenneth A;White, Susan M;Mohammed, Shehla;Metcalfe, Kay A;Fry, Andrew E;Wraige, Elisabeth;Vasudevan, Pradeep C;Balasubramanian, Meena;Scheffer, Ingrid E 
Affiliation: Department of Pediatrics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada
Division of Child Neurology, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Parkville, Victoria, Australia
Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia
South East Thames Regional Genetics Service, Guy's and St Thomas' Hospital, Great Maze Pond, London, UK
Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Oxford Road, Manchester, UK
Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
Institute of Medical Genetics, University Hospital of Wales, Heath Park Way, Cardiff, UK
Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK
Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, St Thomas' Hospital, London, UK
Leicester Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, UK
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK
Academic Unit of Child Health, University of Sheffield, Sheffield, UK
Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Issue Date: Feb-2018
Date: 2018-02-03
Publication information: Epilepsy research 2018; 140: 166-170
Abstract: Bainbridge-Ropers syndrome is a genetic syndrome caused by heterozygous loss-of-function pathogenic variants in ASXL3, which encodes a protein involved in transcriptional regulation. Affected individuals have multiple abnormalities including developmental impairment, hypotonia and characteristic facial features. Seizures are reported in approximately a third of cases; however, the epileptology has not been thoroughly studied. We identified three patients with pathogenic ASXL3 variants and seizures at Austin Health and in the DECIPHER database. These three patients had novel de novo ASXL3 pathogenic variants, two with truncation variants and one with a splice site variant. All three had childhood-onset generalized epilepsy with generalized tonic-clonic seizures, with one also having atypical absence seizures. We also reviewed available clinical data on five published patients with Bainbridge-Ropers syndrome and seizures. Of the five previously published patients, three also had generalized tonic-clonic seizures, one of whom also had possible absence seizures; a fourth patient had absence seizures and possible focal seizures. EEG typically showed features consistent with generalized epilepsy including generalized spike-wave, photoparoxysmal response, and occipital intermittent rhythmic epileptiform activity. Bainbridge-Ropers syndrome is associated with childhood-onset generalized epilepsy with generalized tonic-clonic seizures and/or atypical absence seizures.
DOI: 10.1016/j.eplepsyres.2018.01.014
ORCID: 0000-0001-7831-4593
Journal: Epilepsy research
PubMed URL: 29367179
Type: Journal Article
Subjects: ASXL3
Atypical absence
Bainbridge-Ropers syndrome
Generalized epilepsy
Photoparoxysmal response
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