| Literature DB >> 30269351 |
Maureen S Mulhern1, Constance Stumpel2, Nicholas Stong1, Han G Brunner2,3, Louise Bier1, Natalie Lippa1, James Riviello4, Rob P W Rouhl5,6,7, Marlies Kempers8, Rolph Pfundt3, Alexander P A Stegmann2, Mary K Kukolich9, Aida Telegrafi10, Anna Lehman11, Elena Lopez-Rangel11, Nada Houcinat12,13, Magalie Barth14, Nicolette den Hollander15, Mariette J V Hoffer15, Sarah Weckhuysen16,17,18, Jolien Roovers16,17, Tania Djemie16,17,18, Diana Barca19, Berten Ceulemans20, Dana Craiu19, Johannes R Lemke21, Christian Korff22, Heather C Mefford23, Candace T Meyers23, Zsuzsanna Siegler24, Susan M Hiatt25, Gregory M Cooper25, E Martina Bebin26, Lot Snijders Blok3,27, Hermine E Veenstra-Knol28, Evan H Baugh1, Eva H Brilstra29, Catharina M L Volker-Touw29, Ellen van Binsbergen29, Anya Revah-Politi1, Elaine Pereira30, Danielle McBrian4, Mathilde Pacault31, Bertrand Isidor31, Cedric Le Caignec31, Brigitte Gilbert-Dussardier32,33, Frederic Bilan32,33, Erin L Heinzen1,34, David B Goldstein1, Servi J C Stevens2, Tristan T Sands1,4.
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. Ann Neurol 2018;84:796-803.Entities:
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Year: 2018 PMID： 30269351 PMCID： PMC6249120 DOI： 10.1002/ana.25350
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422