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  De novo variants in neurodevelopmental disorders with epilepsy

Heyne, H. O., Singh, T., Stamberger, H., Jamra, R. A., Caglayan, H., Craiu, D., et al. (2018). De novo variants in neurodevelopmental disorders with epilepsy. Nature Genetics, 50, 1048-1053. doi:10.1038/s41588-018-0143-7.

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Item Permalink: https://hdl.handle.net/21.11116/0000-0001-A926-6 Version Permalink: https://hdl.handle.net/21.11116/0000-0001-A927-5
Genre: Journal Article

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https://www.nature.com/articles/s41588-018-0143-7#Sec31 (Supplementary material)
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 Creators:
Heyne, Henrike O.1, 2, 3, 4, Author
Singh, Tarjinder2, 4, Author
Stamberger, Hannah 5, 6, 7, Author
Jamra, Rami Abou1, Author
Caglayan, Hande8, Author
Craiu, Dana9, Author
Guerrini, Renzo10, Author
Helbig, Katherine L.11, Author
Koeleman, Bobby P. C. 12, Author
Kosmicki, Jack A.2, 4, Author
Linnankivi, Tarja13, Author
May, Patrick14, Author
Muhle, Hiltrud15, Author
Møller, Rikke S.16, 17, Author
Neubauer, Bernd A.18, Author
Palotie, Aarno2, Author
Pendziwiat, Manuela15, Author
Striano, Pasquale19, Author
Tang, Sha20, Author
Wu, Sitao20, Author
EuroEPINOMICS RES Consortium, Author              De Kovel, Carolien G. F.12, 21, Author           Poduri, Annapurna22, AuthorWeber, Yvonne G.23, AuthorWeckhuysen, Sarah5, 6, 7, AuthorSisodiya, Sanya M. 24, 25, AuthorDaly, Mark J.2, 4, AuthorHelbig, Ingo11, 15, AuthorLal, Dennis2, 4, 26, AuthorLemke, Johannes R.1, Author more..
Affiliations:
1University of Leipzig Hospitals and Clinics, Leipzig, Germany, ou_persistent22              
2Program in Medical and Population Genetics, and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA, ou_persistent22              
3Integrated Research and Treatment Center (IFB) Adiposity Diseases, University of Leipzig Hospitals and Clinics, Leipzig, Germany, ou_persistent22              
4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA, ou_persistent22              
5Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium, ou_persistent22              
6Laboratory of Neurogenetics, Institute Born–Bunge, University of Antwerp, Antwerp, Belgium, ou_persistent22              
7Division of Neurology, University Hospital Antwerp, Antwerp, Belgium, ou_persistent22              
8Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey , ou_persistent22              
9Carol Davila’ University of Medicine Bucharest, Department of Clinical Neurosciences (No. 6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania, ou_persistent22              
10Pediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children’s Hospital–University of Florence, Florence, Italy, ou_persistent22              
11Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA, ou_persistent22              
12Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands, ou_persistent22              
13Department of Pediatric Neurology, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland, ou_persistent22              
14Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg, ou_persistent22              
15Department of Neuropediatrics, University Medical Center Schleswig–Holstein, Christian–Albrechts University, Kiel, Germany, ou_persistent22              
16Danish Epilepsy Centre, Dianalund, Denmark, ou_persistent22              
17Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark, ou_persistent22              
18Department of Pediatric Neurology, University Hospital Giessen, Giessen, Germany, ou_persistent22              
19Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa ‘G. Gaslini’ Institute, Genoa, Italy, ou_persistent22              
20Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA, ou_persistent22              
21Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society, ou_792549              
22Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, Boston, MA, USA, ou_persistent22              
23Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany, ou_persistent22              
24Department of Clinical and Experimental Epilepsy, NIHR, University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology, London, UK, ou_persistent22              
25The Epilepsy Society, Chalfont-St-Peter Bucks, UK, ou_persistent22              
26Cologne Center for Genomics (CCG),, Cologne, Germany, ou_persistent22              

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 Abstract: Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known about genetic differences between NDDs with and without epilepsy. We analyzed de novo variants (DNVs) in 6,753 parent–offspring trios ascertained to have different NDDs. In the subset of 1,942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association. Joint analysis of all individuals with NDDs also implicated CACNA1E as a novel disease-associated gene. Comparing NDDs with and without epilepsy, we found missense DNVs, DNVs in specific genes, age of recruitment, and severity of intellectual disability to be associated with epilepsy. We further demonstrate the extent to which our results affect current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDDs with epilepsy.

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Language(s): eng - English
 Dates: 2018-06-25
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1038/s41588-018-0143-7
 Degree: -

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Title: Nature Genetics
  Other : Nature Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: New York, NY : Nature America, Inc.
Pages: - Volume / Issue: 50 Sequence Number: - Start / End Page: 1048 - 1053 Identifier: ISSN: 1061-4036
CoNE: https://pure.mpg.de/cone/journals/resource/954925598609