Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Author:

de Kovel Carolien G. F.1,Syrbe Steffen2,Brilstra Eva H.3,Verbeek Nienke3,Kerr Bronwyn4,Dubbs Holly5,Bayat Allan6,Desai Sonal7,Naidu Sakkubai8,Srivastava Siddharth9,Cagaylan Hande10,Yis Uluc11,Saunders Carol12,Rook Martin13,Plugge Susanna14,Muhle Hiltrud15,Afawi Zaid16,Klein Karl-Martin17,Jayaraman Vijayakumar18,Rajagopalan Ramakrishnan18,Goldberg Ethan5,Marsh Eric5,Kessler Sudha5,Bergqvist Christina5,Conlin Laura K.18,Krok Bryan L.18,Thiffault Isabelle19,Pendziwiat Manuela15,Helbig Ingo20,Polster Tilman21,Borggraefe Ingo22,Lemke Johannes R.23,van den Boogaardt Marie-José3,Møller Rikke S.24,Koeleman Bobby P. C.3

Affiliation:

1. Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands2Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands

2. Division of Child Neurology and Inherited Metabolic Diseases, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

3. Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands

4. Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester, England5Manchester Centre For Genomic Medicine, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester, England6Manchester Academic Health Science Centre, Manchester, England

5. Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

6. Department of Pediatrics, University Hospital of Hvidovre, Copenhagen, Denmark

7. Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland

8. Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland11Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland

9. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts

10. Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey

11. Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, Izmir, Turkey

12. Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri16Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri17Pediatric Pathology and Laboratory Medicine, University of Missouri–Kansas City School of Medicine, Kansas City

13. Department of Medical Physiology, University Medical Center Utrecht, Utrecht, the Netherlands.

14. Department of Biomedical Sciences, University Medical Center Utrecht, Utrecht, the Netherlands

15. Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany

16. Department of Physiology and Pharmacology, Tel Aviv University Medical School, Ramat Aviv, Israel

17. Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt, Germany

18. Division of Genomic Diagnostics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

19. Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri16Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri

20. Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania24University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany

21. Epilepsiezentrum Bethel, Krankenhaus Mara, Kinderepileptologie, Bielefeld, Germany

22. Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics Dr. von Hauner’s Children’s Hospital, University of Munich, Munich, Germany

23. Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany

24. Danish Epilepsy Centre, Dianalund, Denmark29Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark

Publisher

American Medical Association (AMA)

Subject

Neurology (clinical)

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