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

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