X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

• Jia-Hui Sun ,

  Contributed equally to this work with: Jia-Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela

  Roles Data curation, Formal analysis, Investigation

  Affiliations Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China, State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China

  ⨯
• Jiang Chen ,

  Contributed equally to this work with: Jia-Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela

  Roles Data curation, Formal analysis, Investigation

  Affiliation Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China

  ⨯
• Fernando Eduardo Ayala Valenzuela ,

  Contributed equally to this work with: Jia-Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela

  Roles Data curation, Investigation, Resources

  Affiliation Hospital Angeles Tijuana, Tijuana, México

  ⨯
• Carolyn Brown,

  Roles Data curation, Formal analysis, Investigation, Methodology

  Affiliation Illumina Inc., San Diego, California, United States of America

  https://orcid.org/0000-0003-4587-0002

  ⨯
• Diane Masser-Frye,

  Roles Conceptualization

  Affiliation Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children’s Hospital, San Diego, California, United States of America

  https://orcid.org/0000-0002-1538-6941

  ⨯
• Marilyn Jones,

  Roles Conceptualization

  Affiliation Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children’s Hospital, San Diego, California, United States of America

  ⨯
• Leslie Patron Romero,

  Roles Conceptualization, Methodology

  Affiliation Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana, Mexico

  ⨯
• Berardo Rinaldi,

  Roles Conceptualization, Methodology

  Affiliation Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

  https://orcid.org/0000-0001-5763-5347

  ⨯
• Wenhui Laura Li,

  Roles Conceptualization, Resources

  Affiliation Breakthrough Genomics Inc., Irvine, California, United States of America

  ⨯
• Qing-Qing Li,

  Roles Data curation

  Affiliations Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China, State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China

  ⨯
• Dan Wu,

  Roles Data curation

  Affiliations Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China, State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China

  https://orcid.org/0000-0001-6504-0925

  ⨯
• Benedicte Gerard,

  Roles Conceptualization

  Affiliation Laboratoires de diagnostic génétique, Institut Medical d’Alsace, Hôpitaux Universitaire de Strasbourg, Strasbourg, France

  https://orcid.org/0000-0002-0015-7425

  ⨯
• Erin Thorpe ,

  Roles Conceptualization, Methodology, Project administration, Writing – original draft

  * E-mail: ethorpe@illumina.com (ET); abaya@filadelfia.dk (AB); yunshi@nju.edu.cn (YSS)

  Affiliation Illumina Inc., San Diego, California, United States of America

  https://orcid.org/0000-0003-4407-5816

  ⨯
• Allan Bayat ,

  Roles Conceptualization, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: ethorpe@illumina.com (ET); abaya@filadelfia.dk (AB); yunshi@nju.edu.cn (YSS)

  Affiliations Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark, Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark

  https://orcid.org/0000-0003-4986-8006

  ⨯
• Yun Stone Shi

  Roles Conceptualization, Funding acquisition, Project administration, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: ethorpe@illumina.com (ET); abaya@filadelfia.dk (AB); yunshi@nju.edu.cn (YSS)

  Affiliations Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China, State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Nanjing University, Nanjing, China, Institute for Brain Sciences, Nanjing University, Nanjing, China, Chemistry and Biomedicine Innovation Center, Nanjing University, Nanjing, China

  https://orcid.org/0000-0002-8842-9818

  ⨯