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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson, Heather E; Jean-Marçais, Nolwenn; Yang, Edward; Heron, Delphine; Tatton-Brown, Katrina; van der Zwaag, Paul A; Bijlsma, Emilia K; Krock, Bryan L; Backer, E; Kamsteeg, Erik-Jan; Sinnema, Margje; Reijnders, Margot R F; Bearden, David; Begtrup, Amber; Telegrafi, Aida; Lunsing, Roelineke J; Burglen, Lydie; Lesca, Gaetan; Cho, Megan T; Smith, Lacey A; Sheidley, Beth R; Moufawad El Achkar, Christelle; Pearl, Phillip L; Poduri, Annapurna; Skraban, Cara M; Tarpinian, Jennifer; Nesbitt, Addie I; Fransen van de Putte, Dietje E; Ruivenkamp, Claudia A L; Rump, Patrick; Chatron, Nicolas; Sabatier, Isabelle; De Bellescize, Julitta; Guibaud, Laurent; Sweetser, David A; Waxler, Jessica L; Wierenga, Klaas J; Donadieu, Jean; Narayanan, Vinodh; Ramsey, Keri M; Nava, Caroline; Rivière, Jean-Baptiste; Vitobello, Antonio; Tran Mau-Them, Frédéric; Philippe, Christophe; Bruel, Ange-Line; Duffourd, Yannis; Thomas, Laurel; Lelieveld, Stefan H; Schuurs-Hoeijmakers, Janneke.
Afiliação
  • Olson HE; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Jean-Marçais N; Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France.
  • Yang E; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Heron D; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France; Centre de Référence "déficiences intellectuelles de causes rares," 75013 Paris, France; Groupe de Recherche Clinique (GRC) "déficience intellectuelle et autisme" UPMC, 75013 Paris, France.
  • Tatton-Brown K; St George's University of London, London, UK and South West Thames Regional Genetics Service, St George's Universities NHS Foundation Trust, London SW17 0RE, UK.
  • van der Zwaag PA; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands.
  • Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
  • Krock BL; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Backer E; Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, NHS Foundation Trust, Saint Mary's Hospital, Manchester M13 9WL, UK.
  • Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Sinnema M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht 6229 ER, the Netherlands.
  • Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Bearden D; Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine, Rochester, NY 14642, USA.
  • Begtrup A; GeneDx program, Gaithersburg, MD 20877, USA.
  • Telegrafi A; GeneDx program, Gaithersburg, MD 20877, USA.
  • Lunsing RJ; University of Groningen, University Medical Center Groningen, Department of Child Neurology, 9713 GZ Groningen, the Netherlands.
  • Burglen L; Centre de Référence Maladies Rares "Malformations et maladies congénitales du cervelet," Département de Génétique Médicale, APHP, GHUEP, Hôpital Trousseau, 75012 Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Univ 06, 75019 Paris, France; INSERM U1141, Université Paris Diderot, 75019 Paris
  • Lesca G; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France; CNRS UMR 5292, INSERM U1028, CNRL, 69500 Lyon, France; Université Claude Bernard Lyon 1, GHE, 69100 Lyon, France.
  • Cho MT; GeneDx program, Gaithersburg, MD 20877, USA.
  • Smith LA; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Sheidley BR; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Moufawad El Achkar C; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Pearl PL; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Poduri A; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Skraban CM; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Tarpinian J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Nesbitt AI; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Fransen van de Putte DE; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
  • Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
  • Rump P; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands.
  • Chatron N; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France; CNRS UMR 5292, INSERM U1028, CNRL, 69500 Lyon, France; Université Claude Bernard Lyon 1, GHE, 69100 Lyon, France.
  • Sabatier I; Department of Pediatric Neurology, Lyon University Hospital, 69677 Lyon, France.
  • De Bellescize J; Department of clinical epileptology, sleep and functional neurology in children, Lyon University Hospital, 69677 Lyon, France.
  • Guibaud L; Université Claude Bernard Lyon I, CHU de Lyon, 69677 Lyon, France; Service de radiologie, Hôpital-Femme-Mère-Enfant, Hospices Civils de Lyon, 69677 Lyon, France.
  • Sweetser DA; Division of Medical Genetics, Department of Pediatrics and Metabolism, MassGeneral Hospital for Children, Boston, MA 02114, USA.
  • Waxler JL; Division of Medical Genetics, Department of Pediatrics and Metabolism, MassGeneral Hospital for Children, Boston, MA 02114, USA.
  • Wierenga KJ; Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, OK 73104, USA.
  • Donadieu J; Service d'hémato-oncologie pédiatrique, Hôpital Trousseau, APHP, 75012 Paris, France.
  • Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
  • Ramsey KM; Center for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
  • Nava C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France; UPMC, Inserm, CNRS, UM 75, U 1127, UMR 7225, ICM, Paris 75013, France.
  • Rivière JB; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
  • Vitobello A; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
  • Tran Mau-Them F; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
  • Philippe C; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
  • Bruel AL; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
  • Duffourd Y; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
  • Thomas L; Department of Microbiology and Molecular Genetics and University of Pittsburgh Cancer Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA 15219, USA.
  • Lelieveld SH; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Am J Hum Genet ; 102(5): 995-1007, 2018 05 03.
Article em En | MEDLINE | ID: mdl-29656858
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article