Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Cyril Mignot; Celina von Stülpnagel; Caroline Nava; Dorothée Ville; Damien Sanlaville; Gaetan Lesca; Agnès Rastetter; Benoit Gachet; Yannick Marie; G Christoph Korenke; Ingo Borggraefe; Dorota Hoffmann-Zacharska; Elżbieta Szczepanik; Mariola Rudzka-Dybała; Uluç Yiş; Hande Çağlayan; Arnaud Isapof; Isabelle Marey; Eleni Panagiotakaki; Christian Korff; Eva Rossier; Angelika Riess; Stefanie Beck-Woedl; Anita Rauch; Christiane Zweier; Juliane Hoyer; André Reis; Mikhail Mironov; Maria Bobylova; Konstantin Mukhin; Laura Hernandez-Hernandez; Bridget Maher; Sanjay Sisodiya; Marius Kuhn; Dieter Glaeser; Sarah Weckhuysen; Candace T Myers; Heather C Mefford; Konstanze Hörtnagel; Saskia Biskup; EuroEPINOMICS-RES MAE working group; Johannes R Lemke; Delphine Héron; Gerhard Kluger; Christel Depienne

doi:10.1136/jmedgenet-2015-103451

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Erratum: Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy - October 01, 2016

Cognitive and behavioural genetics

Original article

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Authors

Cyril Mignot Département de Génétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Centre de Référence “Déficiences Intellectuelles de Causes Rares, Paris, France Groupe de Recherche Clinique (GRC) “Déficience Intellectuelle et Autisme”, UPMC, Paris, France PubMed articles Google scholar articles
Celina von Stülpnagel Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany Paracelsus Medical University Salzburg, Austria PubMed articles Google scholar articles
Caroline Nava Département de Génétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR S 1127, CNRS UMR 7225, ICM, Paris, France PubMed articles Google scholar articles
Dorothée Ville Service de Neurologie Pédiatrique, Hôpital Femme Mère Enfant, CHU de Lyon, Bron, France PubMed articles Google scholar articles
Damien Sanlaville Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France Université Claude-Bernard Lyon 1, Villeurbanne, France CRNL, CNRS UMR 5292, INSERM U1028, bâtiment IMBL, Villeurbanne, France PubMed articles Google scholar articles
Gaetan Lesca Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France Université Claude-Bernard Lyon 1, Villeurbanne, France CRNL, CNRS UMR 5292, INSERM U1028, bâtiment IMBL, Villeurbanne, France PubMed articles Google scholar articles
Agnès Rastetter Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR S 1127, CNRS UMR 7225, ICM, Paris, France PubMed articles Google scholar articles
Benoit Gachet Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR S 1127, CNRS UMR 7225, ICM, Paris, France PubMed articles Google scholar articles
Yannick Marie Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR S 1127, CNRS UMR 7225, ICM, Paris, France PubMed articles Google scholar articles
G Christoph Korenke Klinikum Oldenburg, Zentrum für Kinder- und Jugendmedizin (Elisabeth Kinderkrankenhaus), Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany PubMed articles Google scholar articles
Ingo Borggraefe Department of Pediatric Neurology and Developmental Medicine and Epilepsy Center, University of Munich, Munich, Germany PubMed articles Google scholar articles
Dorota Hoffmann-Zacharska Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland PubMed articles Google scholar articles
Elżbieta Szczepanik Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland PubMed articles Google scholar articles
Mariola Rudzka-Dybała Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland PubMed articles Google scholar articles
Uluç Yiş Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, İzmir, Turkey PubMed articles Google scholar articles
Hande Çağlayan Department of Molecular Biology and Genetics Istanbul, Boğaziçi University, Istanbul, Turkey PubMed articles Google scholar articles
Arnaud Isapof AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France PubMed articles Google scholar articles
Isabelle Marey Département de Génétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France PubMed articles Google scholar articles
Eleni Panagiotakaki Epilepsy, Sleep and Pediatric Neurophysiology Department (ESEFNP), University Hospitals of Lyon (HCL), France PubMed articles Google scholar articles
Christian Korff Département de l'Enfant et de l'Adolescent, Neuropédiatrie—Hôpitaux Universitaires de Genève, Genève, Switzerland PubMed articles Google scholar articles
Eva Rossier Institute of Human Genetics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Angelika Riess Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Stefanie Beck-Woedl Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany PubMed articles Google scholar articles
Anita Rauch Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland PubMed articles Google scholar articles
Christiane Zweier Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany PubMed articles Google scholar articles
Juliane Hoyer Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany PubMed articles Google scholar articles
André Reis Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany PubMed articles Google scholar articles
Mikhail Mironov Svt. Luka's Institute of Child Neurology and Epilepsy, Moscow, Russia PubMed articles Google scholar articles
Maria Bobylova Svt. Luka's Institute of Child Neurology and Epilepsy, Moscow, Russia PubMed articles Google scholar articles
Konstantin Mukhin Svt. Luka's Institute of Child Neurology and Epilepsy, Moscow, Russia PubMed articles Google scholar articles
Laura Hernandez-Hernandez Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK PubMed articles Google scholar articles
Bridget Maher Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK PubMed articles Google scholar articles
Sanjay Sisodiya Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK PubMed articles Google scholar articles
Marius Kuhn Genetikum, Neu-Ulm, Germany PubMed articles Google scholar articles
Dieter Glaeser Genetikum, Neu-Ulm, Germany PubMed articles Google scholar articles
Sarah Weckhuysen Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR S 1127, CNRS UMR 7225, ICM, Paris, France Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium PubMed articles Google scholar articles
Candace T Myers Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, USA PubMed articles Google scholar articles
Heather C Mefford Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, USA PubMed articles Google scholar articles
Konstanze Hörtnagel CeGaT GmbH, Tübingen, Germany PubMed articles Google scholar articles
Saskia Biskup CeGaT GmbH, Tübingen, Germany PubMed articles Google scholar articles
EuroEPINOMICS-RES MAE working group
Google scholar articles
Johannes R Lemke CeGaT GmbH, Tübingen, Germany PubMed articles Google scholar articles
Delphine Héron Département de Génétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Centre de Référence “Déficiences Intellectuelles de Causes Rares, Paris, France Groupe de Recherche Clinique (GRC) “Déficience Intellectuelle et Autisme”, UPMC, Paris, France Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany PubMed articles Google scholar articles
Gerhard Kluger Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany Paracelsus Medical University Salzburg, Austria PubMed articles Google scholar articles
Christel Depienne Département de Génétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR S 1127, CNRS UMR 7225, ICM, Paris, France PubMed articles Google scholar articles

Correspondence to Dr Cyril Mignot, Département de Génétique, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris F-75013, France; cyril.mignot{at}psl.aphp.fr or Dr Christel depienne, Service de Cytogénétique Constitutionnelle et Prénatale, Hôpital de Hautepierre, 1 avenue Moliére, 67098 STRASBOURG Cedex, France

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Citation

Mignot C, von Stülpnagel C, Nava C, et al

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Journal of Medical Genetics 2016;53:511-522.

Publication history

Received August 12, 2015
Revised February 15, 2016
Accepted February 16, 2016
First published March 17, 2016.

Online issue publication

September 26, 2016

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