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Neurogenetics
Original research
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

Authors

  • Dana Jaber Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, France PubMed articlesGoogle scholar articles
  • Cyril Gitiaux Service de Neurophysiologie Clinique, Centre de référence des maladies neuromusculaires, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université de Paris, Paris, 75015, France PubMed articlesGoogle scholar articles
  • Sophie Blesson Service de Génétique, Unité de Génétique Clinique, CHRU de Tours, Hôpital Bretonneau, Tours, 37044, France PubMed articlesGoogle scholar articles
  • Florent Marguet Laboratoire de Pathologie, CHU de Rouen and Normandie Univ, Rouen, 76000, France INSERM, Laboratoire NeoVasc ERI28, Rouen, 76000, France PubMed articlesGoogle scholar articles
  • David Buard Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, France PubMed articlesGoogle scholar articles
  • Maritzaida Varela Salgado Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, France PubMed articlesGoogle scholar articles
  • Anna Kaminska Neurophysiology Department, Necker-Enfants Malades Hospital, Assistance publique-Hôpitaux de Paris, Paris, 75015, France PubMed articlesGoogle scholar articles
  • Julien Saada Département d’Obstétrique et Gynécologie, Hôpital Antoine-Béclère, Assistance publique-Hôpitaux de Paris, Clamart, 92140, France PubMed articlesGoogle scholar articles
  • Catherine Fallet-Bianco Département de Pathologie, CHU Sainte-Justine, Université de Montréal, Quebec, H3T 1C5, Quebec, Canada PubMed articlesGoogle scholar articles
  • Jelena Martinovic Unité de Foetopathologie, Hôpital Antoine-Béclère, Assistance publique-Hôpitaux de Paris, Clamart, 92140, France PubMed articlesGoogle scholar articles
  • Annie Laquerriere Laboratoire de Pathologie, CHU de Rouen and Normandie Univ, Rouen, 76000, France INSERM, Laboratoire NeoVasc ERI28, Rouen, 76000, France PubMed articlesGoogle scholar articles
  • Judith Melki Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, France Unité de Génétique Médicale, Centre de référence des anomalies du développement et syndromes malformatifs d’Île-de-France, Assistance publique-Hôpitaux de Paris, Le Kremlin Bicêtre, 94276, France PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Judith Melki, INSERM, Paris 94276, France; judith.melki{at}inserm.fr
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Citation

Jaber D, Gitiaux C, Blesson S, et al
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
Journal of Medical Genetics 2021;58:737-742.

Publication history

  • Received May 8, 2020
  • Revised August 2, 2020
  • Accepted August 6, 2020
  • First published September 14, 2020.
Online issue publication 
January 08, 2022

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© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.