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Mulhern, Maureen S.; Stumpel, Constance; Stong, Nicholas; Brunner, Han G.; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P. W.; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P. A.; Kukolich, Mary K.; Telegrafi, Aida; Lehman, Anna; Lopez‐Rangel, Elena; Houcinat, Nada; Barth, Magalie; den Hollander, Nicolette; Hoffer, Mariette J. V.; Weckhuysen, Sarah; Roovers, Jolien; Djemie, Tania; Barca, Diana; Ceulemans, Berten; [...]

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

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  • Media type: E-Article
  • Title: NBEA: Developmental disease gene with early generalized epilepsy phenotypes
  • Contributor: Mulhern, Maureen S.; Stumpel, Constance; Stong, Nicholas; Brunner, Han G.; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P. W.; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P. A.; Kukolich, Mary K.; Telegrafi, Aida; Lehman, Anna; Lopez‐Rangel, Elena; Houcinat, Nada; Barth, Magalie; den Hollander, Nicolette; Hoffer, Mariette J. V.; Weckhuysen, Sarah; Roovers, Jolien; Djemie, Tania; Barca, Diana; Ceulemans, Berten; [...]
  • imprint: Wiley, 2018
  • Published in: Annals of Neurology
  • Language: English
  • DOI: 10.1002/ana.25350
  • ISSN: 0364-5134; 1531-8249
  • Keywords: Neurology (clinical) ; Neurology
  • Origination:
  • Footnote:
  • Description: <jats:p><jats:italic>NBEA</jats:italic> is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, <jats:italic>NBEA</jats:italic> has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo <jats:italic>NBEA</jats:italic> variants in patients with NDD, establishing <jats:italic>NBEA</jats:italic> 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</jats:p>