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NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
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; Craiu, Dana; Lemke, Johannes R; Korff, Christian; Mefford, Heather C; Meyers, Candace T; Siegler, Zsuzsanna; Hiatt, Susan M; Cooper, Gregory M; Bebin, E Martina; Snijders Blok, Lot; Veenstra-Knol, Hermine E; Baugh, Evan H; Brilstra, Eva H; Volker-Touw, Catharina M L; van Binsbergen, Ellen; Revah-Politi, Anya; Pereira, Elaine; McBrian, Danielle; Pacault, Mathilde; Isidor, Bertrand; Le Caignec, Cedric; Gilbert-Dussardier, Brigitte; Bilan, Frederic; Heinzen, Erin L; Goldstein, David B; Stevens, Servi J C.
Affiliation
  • Mulhern MS; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
  • Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Stong N; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
  • Brunner HG; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Bier L; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Lippa N; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
  • Riviello J; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
  • Rouhl RPW; Department of Neurology, Columbia University Department of Neurology, New York, NY.
  • Kempers M; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Pfundt R; Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Maastricht, the Netherlands.
  • Stegmann APA; School for Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands.
  • Kukolich MK; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Telegrafi A; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Lehman A; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Lopez-Rangel E; GeneDx, Gaithersburg, MD.
  • Houcinat N; Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • den Hollander N; Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Hoffer MJV; University of Burgundy-Franche-Comté, UMR1231 GAD, INSERM, Dijon, France.
  • Weckhuysen S; Dijon Bourgogne University Hospital Center, Rare Diseases Reference Center "Developmental Anomalies and Informational Syndromes," Genetic Center, FHU-TRANSLAD, Dijon, France.
  • Roovers J; Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Djemie T; Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Barca D; Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.
  • Ceulemans B; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Craiu D; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • Korff C; Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.
  • Mefford HC; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Meyers CT; Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.
  • Siegler Z; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Hiatt SM; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • Cooper GM; Pediatric Neurology Clinic, Al Obregia Hospital, Carol Davila University of Medicine, Bucharest, Romania.
  • Bebin EM; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • Snijders Blok L; Pediatric Neurology Clinic, Al Obregia Hospital, Carol Davila University of Medicine, Bucharest, Romania.
  • Veenstra-Knol HE; Institute for Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Baugh EH; Pediatric Neurology Unit, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.
  • Brilstra EH; Department of Pediatrics, University of Washington, Seattle, WA.
  • Volker-Touw CML; Department of Pediatrics, University of Washington, Seattle, WA.
  • van Binsbergen E; Bethesda Children's Hospital, Department of Neurology, Budapest, Hungary.
  • Revah-Politi A; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Pereira E; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • McBrian D; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL.
  • Pacault M; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Isidor B; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
  • Le Caignec C; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Gilbert-Dussardier B; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
  • Bilan F; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
  • Heinzen EL; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
  • Goldstein DB; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
  • Stevens SJC; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
Ann Neurol ; 84(5): 788-795, 2018 11.
Article in En | MEDLINE | ID: mdl-30269351
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;84796-803.
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Full text: 1 Database: MEDLINE Main subject: Carrier Proteins / Neurodevelopmental Disorders / Nerve Tissue Proteins Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Year: 2018 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Carrier Proteins / Neurodevelopmental Disorders / Nerve Tissue Proteins Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Year: 2018 Type: Article