Please use this identifier to cite or link to this item:
https://ahro.austin.org.au/austinjspui/handle/1/28462
Title: | Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. | Austin Authors: | Carvill, Gemma L;Jansen, Sandra;Lacroix, Amy;Zemel, Matthew;Mehaffey, Michele;De Vries, Petra;Brunner, Han G;Scheffer, Ingrid E ;De Vries, Bert B A;Vissers, Lisenka E L M;Mefford, Heather C | Affiliation: | The Florey Institute of Neuroscience and Mental Health Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA |
Issue Date: | 2021 | Date: | 2021 | Publication information: | Developmental Medicine and Child Neurology 2021; 63(12): 1441-1447 | Abstract: | To determine whether genes that cause developmental and epileptic encephalopathies (DEEs) are more commonly implicated in intellectual disability with epilepsy as a comorbid feature than in intellectual disability only. We performed targeted resequencing of 18 genes commonly implicated in DEEs in a cohort of 830 patients with intellectual disability (59% male) and 393 patients with DEEs (52% male). We observed a significant enrichment of pathogenic/likely pathogenic variants in patients with epilepsy and intellectual disability (16 out of 159 in seven genes) compared with intellectual disability only (2 out of 671) (p<1.86×10-10 , odds ratio 37.22, 95% confidence interval 8.60-337.0). We identified seven genes that are more likely to cause epilepsy and intellectual disability than intellectual disability only. Conversely, two genes, GRIN2B and SCN2A, can be implicated in intellectual disability without epilepsy; in these instances intellectual disability is not a secondary consequence of ongoing seizures but rather a primary cause. What this paper adds A subset of genes are more commonly implicated in epilepsy than other neurodevelopmental disorders. GRIN2B and SCN2A are implicated in intellectual disability and epilepsy independently. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/28462 | DOI: | 10.1111/dmcn.14989 | ORCID: | 0000-0003-4945-3628 0000-0002-2311-2174 0000-0001-7188-522X |
Journal: | Developmental Medicine and Child Neurology | PubMed URL: | 34247411 | PubMed URL: | https://pubmed.ncbi.nlm.nih.gov/34247411/ | Type: | Journal Article |
Appears in Collections: | Journal articles |
Show full item record
Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.