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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 ¹² Dana Craiu ¹³ Johannes Lemke Christian Korff ¹⁴ Heather Mefford Candace Meyers Zsuzsanna Siegler Susan Hiatt Gregory Cooper E. Martina Bebin Lot Snijders Blok ³ Hermine Veenstra-Knol Evan Baugh Eva Brilstra ¹⁵ Catharina Volker-Touw Ellen van Binsbergen ¹⁶ Anya Revah-Politi Elaine Pereira Danielle Mcbrian Mathilde Pacault ¹⁷ Bertrand Isidor ¹⁸ Cédric Le Caignec ¹⁹ 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 UA - University of Antwerp

13 UMPCD - University of Medicine and Pharmacy “Carol Davila” Bucharest

14 Dpt de l'Enfant et de l'Adolescent, Neuropédiatrie [Genève]

15 University Medical Center [Utrecht]

16 Department of Medical Genetics

17 Department of Medicine

18 Service de génétique médicale - Unité de génétique clinique [Nantes]

19 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

Type de document :

Article dans une revue

Domaine :

Sciences du Vivant [q-bio] / Génétique / Génétique humaine

Liste complète des métadonnées

https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02061923
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Soumis le : vendredi 8 mars 2019 - 14:06:43
Dernière modification le : vendredi 20 mai 2022 - 11:06:26