The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

Author:

Chatron Nicolas1,Møller Rikke S.2,Champaigne Neena L.3,Schneider Amy L.4,Kuechler Alma5,Labalme Audrey1,Simonet Thomas6,Baggett Lauren3,Bardel Claire7,Kamsteeg Erik-Jan8,Pfundt Rolph8,Romano Corrado9ORCID,Aronsson Johan10,Alberti Antonino9,Vinci Mirella9,Miranda Maria J.11,Lacroix Amy12,Marjanovic Dragan2,des Portes Vincent13,Edery Patrick1,Wieczorek Dagmar514,Gardella Elena2,Scheffer Ingrid E.41516,Mefford Heather12,Sanlaville Damien1,Carvill Gemma L.17,Lesca Gaetan1

Affiliation:

1. Department of Medical Genetics; Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE; Lyon France

2. Danish Epilepsy Centre, Dianalund, and University of Southern Denmark, Institute for Regional Health research; Odense Denmark

3. Greenwood Genetic Center; Greenwood SC

4. Epilepsy Research Centre, Department of Medicine, Austin Health; University of Melbourne; Heidelberg VIC Australia

5. Institut für Humangenetik, Universitätsklinikum, and Universität Duisburg-Essen; Essen Germany

6. Service de Biostatistique-Bioinformatique, Lyon University Hospital, Lyon and CNRS UMR5558, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique Santé, Villeurbanne, and University Claude Bernard Lyon 1; Lyon France

7. Centre de Biotechnologie Cellulaire, Hospices Civils de Lyon, Lyon, and Nerve-Muscle Interactions Team, Institut NeuroMyoGène CNRS UMR 5310-INSERM U1217-Université Claude Bernard Lyon 1; Lyon France

8. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

9. Oasi Research Institute-IRCCS; Troina Italy

10. Habiliteringscentrum, Ryhov Hospital; Jönköping Sweden

11. Department of Pediatrics, Pediatric Neurology; Herlev University Hospital; Copenhagen Denmark

12. Department of Pediatrics, Division of Genetic Medicine; University of Washington; Seattle WA

13. Centre de référence « Déficiences Intellectuelles de causes rares », HCL, F-69675, Bron; ISC, CNRS UMR 5304, Bron; Université de Lyon; Lyon France

14. Institut für Humangenetik, Universitätsklinikum Essen, Essen, and Institut für Humangenetik, Universitätsklinikum Düsseldorf; Düsseldorf Germany

15. Florey Institute of Neuroscience and Mental Health; The University of Melbourne; VIC Australia

16. Department of Paediatrics, Royal Children's Hospital; The University of Melbourne; Parkville Victoria Australia

17. Department of Neurology; Northwestern University Feinberg School of Medicine; Chicago IL

Funder

NIH

CURE

Italian Ministry of Health and ‘5 per mille’ funding."

National Health and Medical Research Council

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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