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  NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Mulhern, M. S., Stumpel, C., Stong, N., Brunner, H. G., Bier, L., Lippa, N., et al. (2018). NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Annals of Neurology, 84(5), 788-795. doi:10.1002/ana.25350.

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Item Permalink: https://hdl.handle.net/21.11116/0000-0002-72DA-8 Version Permalink: https://hdl.handle.net/21.11116/0000-0003-BC3E-5
Genre: Journal Article

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 Creators:
Mulhern, Maureen S.1, Author
Stumpel, Constance2, Author
Stong, Nicholas1, Author
Brunner, Han G.2, 3, Author
Bier, Louise1, Author
Lippa, Natalie1, Author
Riviello, James4, Author
Rouhl, Rob P. W.5, 6, 7, Author
Kempers, Marlies8, Author
Pfundt, Rolph3, Author
Stegmann, Alexander P. A.2, Author
Kukolich, Mary K.9, Author
Telegrafi, Aida10, Author
Lehman, Anna11, Author
Lopez-Rangel, Elena11, Author
Houcinat, Nada12, 13, Author
Barth, Magalie14, Author
Den Hollander, Nicolette15, Author
Hoffer, Mariette J. V.15, Author
Weckhuysen, Sarah16, 17, 18, Author
Roovers, Jolien16, 17, AuthorDjemie, Tania16, 17, 18, AuthorBarca, Diana19, AuthorCeulemans, Berten20, AuthorCraiu, Dana19, AuthorLemke, Johannes R.21, AuthorKorff, Christian22, AuthorMefford, Heather C.23, AuthorMeyers, Candace T.23, AuthorSiegler, Zsuzsanna24, AuthorHiatt, Susan M.25, AuthorCooper, Gregory M.25, AuthorBebin, E. Martina26, AuthorSnijders Blok, Lot3, 27, Author           Veenstra-Knol, Hermine E.28, AuthorBaugh, Evan H.1, AuthorBrilstra, Eva H.29, AuthorVolker-Touw, Catharina M. L.29, AuthorVan Binsbergen, Ellen29, AuthorRevah-Politi, Anya1, AuthorPereira, Elaine30, AuthorMcBrian, Danielle4, AuthorPacault, Mathilde31, AuthorIsidor, Bertrand31, AuthorLe Caignec, Cedric31, AuthorGilbert-Dussardier, Brigitte32, 33, AuthorBilan, Frederic32, 33, AuthorHeinzen, Erin L.1, 34, AuthorGoldstein, David B.1, AuthorStevens, Seri J. C.2, AuthorSands, Tristan T.1, 4, Author more..
Affiliations:
1Columbia University Medical Center, Institute for Genomic Medicine, New York, NY, USA, ou_persistent22              
2Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands, ou_persistent22              
3Donders Institute for Brain, Cognition and Behaviour, External Organizations, ou_55236              
4Department of Neurology, Columbia University, New York, NY, USA, ou_persistent22              
5Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands, ou_persistent22              
6Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Maastricht, The Netherlands, ou_persistent22              
7School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands, ou_persistent22              
8Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, ou_persistent22              
9Cook Children's Hospital, Fort Worth, TX, USA, ou_persistent22              
10GeneDx, Gaithersburg, MD, USA, ou_persistent22              
11Medical Genetics, University of British Columbia, Vancouver, Canada, ou_persistent22              
12University of Burgundy–Franche-Comté, UMR1231 GAD, INSERM, Dijon, France, ou_persistent22              
13Dijon Bourgogne University Hospital Center, Rare Diseases Reference Center “Developmental Anomalies and Informational Syndromes,” Genetic Center, FHU-TRANSLAD, Dijon, France, ou_persistent22              
14Department of Biochemistry and Genetics, Angers University Hospital Center, Angers, France, ou_persistent22              
15Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands, ou_persistent22              
16Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium, ou_persistent22              
17Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium, ou_persistent22              
18Department of Neurology, University Hospital Antwerp, Antwerp, Belgium, ou_persistent22              
19Pediatric Neurology Clinic, Al Obregia Hospital, Carol Davila University of Medicine, Bucharest, Romania, ou_persistent22              
20Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium, ou_persistent22              
21Institute for Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany, ou_persistent22              
22Pediatric Neurology Unit, Child and Adolescent Department, University Hospitals, Geneva, Switzerland, ou_persistent22              
23Department of Pediatrics, University of Washington, Seattle, WA, USA, ou_persistent22              
24Bethesda Children's Hospital, Department of Neurology, Budapest, Hungary, ou_persistent22              
25HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA, ou_persistent22              
26Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA, ou_persistent22              
27Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society, Nijmegen, NL, ou_792549              
28Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands, ou_persistent22              
29University Medical Center Utrecht, Department of Genetics, Utrecht, The Netherlands, ou_persistent22              
30Division of Clinical Genetics, Department of Pediatrics, New York-Presbyterian Morgan Stanley Children’s Hospital, Columbia University Medical Center, New York, NY, USA, ou_persistent22              
31Genetics Service, Nantes University Hospital Center, Nantes, France, ou_persistent22              
32Genetics Service, Poitiers University Hospital Center, Poitiers, France, ou_persistent22              
33University of Poitiers, Poitiers, France, ou_persistent22              
34Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA, ou_persistent22              

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 Abstract: NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy–like phenotype in a subset of patients.

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Language(s): eng - English
 Dates: 2018-08-272018-04-262018-09-232018-10-252018-11
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1002/ana.25350
BibTex Citekey: Mulhern2018
 Degree: -

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Title: Annals of Neurology
Source Genre: Journal
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Publ. Info: Boston : American Neurological Association
Pages: - Volume / Issue: 84 (5) Sequence Number: - Start / End Page: 788 - 795 Identifier: ISSN: 0364-5134
CoNE: https://pure.mpg.de/cone/journals/resource/954925523748