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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E; Bakker, Dewi P; Barwick, Katy; Bonfert, Michaela V; Bönnemann, Carsten G; Brilstra, Eva H; Chung, Wendy K; Clarke, Angus J; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A; Lee, Virgina; Leppig, Kathleen A; Lundgren, Johan; McDonald, Marie T; McLaughlin, Heather M; McTague, Amy; Mefford, Heather C; Mignot, Cyril; Mikati, Mohamad A; Nava, Caroline; Raymond, F Lucy; Sampson, Julian R; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T C; Shinawi, Marwan; Slavotinek, Anne; Stödberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A; Taylor, Ashley C; Toler, Tomi L; van den Boogaard, Marie-José; van der Crabben, Saskia N; van Gassen, Koen L I; van Jaarsveld, Richard H; Van Ziffle, Jessica.
Afiliação
  • Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Zacher P; The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany.
  • Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Babcock HE; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.
  • Bakker DP; Department of Child Neurology, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
  • Barwick K; Institute of Child Health, University Collge London, London, UK.
  • Bonfert MV; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU - University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
  • Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.
  • Clarke AJ; Division of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK.
  • Devine P; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Fraser JL; Rare Disease Institute, Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
  • Friedman J; Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.
  • Gates A; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Ghoumid J; Department of Genetic Services, Kaiser Permanente Washington, Seattle, WA, USA.
  • Hobson E; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
  • Horvath G; Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, UK.
  • Keller-Ramey J; Department of Pediatrics, Division of Biochemical Diseases, University of British Columbia, Vancouver, Canada.
  • Keren B; GeneDx, Gaithersburg, MD, USA.
  • Kurian MA; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.
  • Lee V; Institute of Child Health, University Collge London, London, UK.
  • Leppig KA; Department of Neurology, University of California San Francisco, San Francisco, CA, USA.
  • Lundgren J; Department of Genetic Services, Kaiser Permanente Washington, Seattle, WA, USA.
  • McDonald MT; Institute of Clinical Sciences, Skane University Hospital, Lund, Sweden.
  • McLaughlin HM; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • McTague A; Invitae Corporation, San Francisco, CA, USA.
  • Mefford HC; Institute of Child Health, University Collge London, London, UK.
  • Mignot C; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Mikati MA; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.
  • Nava C; Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Raymond FL; Sorbonne University, Paris Brain Institute, Inserm U1127, CNRS UMR 7225, AP-HP, Pitié Salpêtrière Hospital, Department of Genetics, Paris, France.
  • Sampson JR; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
  • Sanchis-Juan A; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Shashi V; Division of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK.
  • Shieh JTC; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
  • Shinawi M; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, UK.
  • Slavotinek A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Stödberg T; Division of Medical Genetics, University of California, San Francisco, San Francisco, CA, USA.
  • Stong N; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
  • Sullivan JA; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Taylor AC; Division of Medical Genetics, University of California, San Francisco, San Francisco, CA, USA.
  • Toler TL; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
  • van den Boogaard MJ; Institute for Genomic Medicine, Columbia University, New York, NY, USA.
  • van der Crabben SN; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • van Gassen KLI; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
  • van Jaarsveld RH; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Van Ziffle J; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Genet Med ; 23(4): 653-660, 2021 04.
Article em En | MEDLINE | ID: mdl-33299146
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Epilepsia / Proteína 25 Associada a Sinaptossoma / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Epilepsia / Proteína 25 Associada a Sinaptossoma / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos