NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
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ABSTRACT:
SUBMITTER: Mulhern MS
PROVIDER: S-EPMC6249120 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Publications
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern Maureen S MS Stumpel Constance C Stong Nicholas N Brunner Han G HG Bier Louise L Lippa Natalie N Riviello James J Rouhl Rob P W RPW Kempers Marlies M Pfundt Rolph R Stegmann Alexander P A APA Kukolich Mary K MK Telegrafi Aida A Lehman Anna A Lopez-Rangel Elena E Houcinat Nada N Barth Magalie M den Hollander Nicolette N Hoffer Mariette J V MJV Weckhuysen Sarah S Roovers Jolien J Djemie Tania T Barca Diana D Ceulemans Berten B Craiu Dana D Lemke Johannes R JR Korff Christian C Mefford Heather C HC Meyers Candace T CT Siegler Zsuzsanna Z Hiatt Susan M SM Cooper Gregory M GM Bebin E Martina EM Snijders Blok Lot L Veenstra-Knol Hermine E HE Baugh Evan H EH Brilstra Eva H EH Volker-Touw Catharina M L CML van Binsbergen Ellen E Revah-Politi Anya A Pereira Elaine E McBrian Danielle D Pacault Mathilde M Isidor Bertrand B Le Caignec Cedric C Gilbert-Dussardier Brigitte B Bilan Frederic F Heinzen Erin L EL Goldstein David B DB Stevens Servi J C SJC Sands Tristan T TT
Annals of neurology 20181025 5
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 ...[more]
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