Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

Author:

Sands Tristan T.12ORCID,Miceli Francesco3,Lesca Gaetan456,Beck Anita E.78,Sadleir Lynette G.9,Arrington Daniel K.10,Schönewolf‐Greulich Bitten1112,Moutton Sébastien13,Lauritano Anna3,Nappi Piera3,Soldovieri Maria Virginia14,Scheffer Ingrid E.15,Mefford Heather C.7,Stong Nicholas2,Heinzen Erin L.2ORCID,Goldstein David B.2,Perez Ana Grijalvo16,Kossoff Eric H.17,Stocco Amber18,Sullivan Jennifer A.19,Shashi Vandana19,Gerard Benedicte20,Francannet Christine21,Bisgaard Anne‐Marie11,Tümer Zeynep1222,Willems Marjolaine23,Rivier François24,Vitobello Antonio25,Thakkar Kavita26,Rajan Deepa S.26,Barkovich A. James27,Weckhuysen Sarah2829,Cooper Edward C.30,Taglialatela Maurizio3,Cilio M. Roberta1631

Affiliation:

1. Department of NeurologyColumbia University Medical Center New York NY

2. Institute for Genomic MedicineColumbia University Medical Center New York NY

3. Section of Pharmacology, Department of NeuroscienceUniversity of Naples “Federico II,” Naples Italy

4. Department of Medical Genetics, Reference Center for Developmental AnomaliesCivil Hospices of Lyon Lyon France

5. French Institute of Health and Medical Research U1028, French National Center for Scientific Research UMR5292Center for Research in Neuroscience in Lyon, Genetics of Neurodevelopment Team, Claude Bernard University Lyon 1 Lyon France

6. Claude Bernard University Lyon 1 Lyon France

7. Division of Genetic Medicine, Department of PediatricsUniversity of Washington Seattle WA

8. Seattle Children's Hospital Seattle WA

9. Department of Paediatrics and Child HealthUniversity of Otago Wellington New Zealand

10. Children's NeurologySt Luke's Children's Hospital Boise ID

11. Center for Rett Syndrome, Department of Pediatrics and Adolescent MedicineNational Hospital Copenhagen Denmark

12. Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet and Department of Clinical MedicineUniversity of Copenhagen Copenhagen Denmark

13. French Institute of Health and Medical Research U1231, Laboratory of Cognitive Neuroscience UMR1231, Genetics of Developmental AnomaliesBurgundy University F‐21000 Dijon France

14. Department of Medicine and Health Sciences “Vincenzo Tiberio”University of Molise Campobasso Italy

15. University of Melbourne, Austin Health, Royal Children's HospitalFlorey and Murdoch Institutes Melbourne Victoria Australia

16. Department of NeurologyUniversity of California San Francisco San Francisco CA

17. Departments of Pediatrics and NeurologyJohns Hopkins School of Medicine Baltimore MD

18. Pediatric Neurology, INTEGRIS Baptist Medical Center Oklahoma City OK

19. Division of Medical Genetics, Department of PediatricsDuke University Durham NC

20. Molecular Genetic UnitStrasbourg University Hospital Strasbourg France

21. Genetics Department, Reference Center for Developmental AnomaliesClermont‐Ferrand University Hospital Clermont‐Ferrand France

22. Department of Clinical Medicine, Faculty of Health and Medical SciencesUniversity of Copenhagen Copenhagen Denmark

23. Reference Center for Developmental Disorders, Department of Medical Genetics, Arnaud de Villeneuve HospitalMontpellier University Hospital Montpellier France

24. Department of Pediatric NeurologyUniversity Hospital of Montpellier, and Physiology and Experimental Medicine of Heart and Muscle Unit, University of Montpellier, National Institute for Health and Medical Research, French National Center for Scientific Research Montpellier France

25. Functional Unit 12, Innovation in Genomic Diagnosis of Rare DiseasesUniversity Hospital Dijon‐Bourgogne Dijon France

26. Division of Neurology, Department of PediatricsChildren's Hospital of Pittsburgh and University of Pittsburgh School of Medicine Pittsburgh PA

27. Department of Radiology and Biomedical ImagingUniversity of California San Francisco San Francisco CA

28. Neurogenetics GroupUniversity of Antwerp Antwerp Belgium

29. Neurology DepartmentUniversity Hospital Antwerp Antwerp Belgium

30. Departments of Neurology, Neuroscience, and Molecular and Human GeneticsBaylor College of Medicine Houston TX

31. Departments of Pediatrics and Institute of Experimental and Clinical ResearchUniversity of Louvain Brussels Belgium

Funder

Fondazione Telethon

Fonds Wetenschappelijk Onderzoek

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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