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NBEA : Developmental disease gene with early generalized epilepsy phenotypes

Maureen Mulhern 1 Constance Stumpel 2 Nicholas Stong 1 Han Brunner 2 Louise Bier 1 Natalie Lippa 1 James Riviello Rob Rouhl 2 Marlies Kempers 3 Rolph Pfundt 4 Alexander Stegmann 2 Mary Kukolich Aida Telegrafi 5 Anna Lehman Elena Lopez-Rangel Nada Houcinat 6, 7, 8 Magalie Barth 9 Nicolettè den Hollander 10 Mariette Hoffer Sarah Weckhuysen 11 Jolien Roovers Tania Djemie 12 Diana Barca Berten Ceulemans 13 Dana Craiu 14 Johannes Lemke Christian Korff 15 Heather Mefford Candace Meyers Zsuzsanna Siegler Susan Hiatt Gregory Cooper E. Martina Bebin Lot Snijders Blok 3 Hermine Veenstra-Knol Evan Baugh Eva Brilstra 16 Catharina Volker-Touw Ellen van Binsbergen 17 Anya Revah-Politi Elaine Pereira Danielle Mcbrian Mathilde Pacault 18 Bertrand Isidor 19 Cédric Le Caignec 20 Brigitte Gilbert-Dussardier Frédéric Bilan Erin Heinzen David Goldstein Servi Stevens Tristan Sands 1, *
* Auteur correspondant
1 CUMC - Columbia University Medical Center
2 MUMC - Maastricht University Medical Centre
3 Radboud University Medical Center [Nijmegen]
4 Donders Institute for Brain, Cognition and Behaviour
5 GeneDx [Gaithersburg, MD, USA]
6 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
7 Equipe GAD (LNC - U1231)
LNC - Lipides - Nutrition - Cancer [Dijon - U1231]
8 UBFC - Université Bourgogne Franche-Comté [COMUE]
9 Service de génétique [Angers]
10 Department of Human Genetics
11 ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute
12 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium
13 UA - University of Antwerp
14 UMPCD - University of Medicine and Pharmacy “Carol Davila” Bucharest
15 Dpt de l'Enfant et de l'Adolescent, Neuropédiatrie [Genève]
16 University Medical Center [Utrecht]
17 Department of Medical Genetics
18 Department of Medicine
19 Service de génétique médicale - Unité de génétique clinique [Nantes]
20 CHU Nantes - Centre hospitalier universitaire de Nantes
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.
Keywords : NBEA encodes neurobeachin De-Novo Mutations Neurobeachin Autism Framework Spectrum Deletion Patient
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02061923
Contributeur : Lnc - Université de Bourgogne <>
Soumis le : vendredi 8 mars 2019 - 14:06:43
Dernière modification le : vendredi 18 décembre 2020 - 18:46:05

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UNIV-BOURGOGNE | CNRS | UNAM | UNIV-ANGERS | LNC-UMR866 | LNC-GAD | UNIV-NANTES | SORBONNE-UNIVERSITE | ICM | SU-MEDECINE | SU-TI

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Maureen Mulhern, Constance Stumpel, Nicholas Stong, Han Brunner, Louise Bier, et al.. NBEA : Developmental disease gene with early generalized epilepsy phenotypes. Annals of Neurology, Wiley, 2018, 84 (5), pp.788-795. ⟨10.1002/ana.25350⟩. ⟨hal-02061923⟩

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