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A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Parthasarathy, Shridhar; Ruggiero, Sarah McKeown; Gelot, Antoinette; Soardi, Fernanda C; Ribeiro, Bethânia F R; Pires, Douglas E V; Ascher, David B; Schmitt, Alain; Rambaud, Caroline; Represa, Alfonso; Xie, Hongbo M; Lusk, Laina; Wilmarth, Olivia; McDonnell, Pamela Pojomovsky; Juarez, Olivia A; Grace, Alexandra N; Buratti, Julien; Mignot, Cyril; Gras, Domitille; Nava, Caroline; Pierce, Samuel R; Keren, Boris; Kennedy, Benjamin C; Pena, Sergio D J; Helbig, Ingo; Cuddapah, Vishnu Anand.
Afiliação
  • Parthasarathy S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 191
  • Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 191
  • Gelot A; AP-HP, Hôpital Armand-Trousseau, Service d'Anatomie Pathologique, 75012 Paris, France; INMED INSERM U 901 Parc Scientifique de Luminy, 13273 Marseille, France; Centre de Recherche Clinique ConCer-LD, Paris, France.
  • Soardi FC; GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil; Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Bel
  • Ribeiro BFR; Secretaria Estadual de Saúde do Estado do Acre, Rio Branco, AC, Brazil.
  • Pires DEV; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia; Systems and Computational Biology, Bio21 Institute, University of Melbourne, 30 Flemington Rd, Parkville, VIC 3052, Australia; School of Computing and Information Systems, University o
  • Ascher DB; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia; Systems and Computational Biology, Bio21 Institute, University of Melbourne, 30 Flemington Rd, Parkville, VIC 3052, Australia; School of Chemistry and Molecular Biology, University of
  • Schmitt A; INSERM U 1016, Institut Cochin, Paris, France; CNRS UMR 8104, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Rambaud C; AP-HP, Hôpital Raymond-Poincaré, Laboratoire Anatomie Pathologique, Garches, France.
  • Represa A; INMED, INSERM, Aix-Marseille Université, Campus de Luminy, 13009 Marseille, France.
  • Xie HM; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.
  • Lusk L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 191
  • Wilmarth O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • McDonnell PP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, U
  • Juarez OA; Baylor College of Medicine Genetics Clinic, Children's Hospital of San Antonio, San Antonio, TX, USA.
  • Grace AN; Baylor College of Medicine Genetics Clinic, Children's Hospital of San Antonio, San Antonio, TX, USA.
  • Buratti J; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France.
  • Mignot C; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, 75013 Paris, France; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris
  • Gras D; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris, France.
  • Nava C; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, 75013 Paris, France; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris
  • Pierce SR; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Keren B; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, 75013 Paris, France; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris
  • Kennedy BC; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA; Department of Neurosurgery, The University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Pena SDJ; GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil; Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Bel
  • Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 191
  • Cuddapah VA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: cuddapahv@chop.edu.
Am J Hum Genet ; 109(12): 2253-2269, 2022 12 01.
Article em En | MEDLINE | ID: mdl-36413998
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Dinaminas / Síndromes Epilépticas Idioma: En Ano de publicação: 2022 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Dinaminas / Síndromes Epilépticas Idioma: En Ano de publicação: 2022 Tipo de documento: Article