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Article dans une revue

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, *
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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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 : mardi 1 septembre 2020 - 15:46:09

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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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