Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

Author:

Masnada Silvia123,Hedrich Ulrike B S4,Gardella Elena56,Schubert Julian4,Kaiwar Charu7,Klee Eric W8,Lanpher Brendan C9,Gavrilova Ralitza H10,Synofzik Matthis1112,Bast Thomas13,Gorman Kathleen1415,King Mary D1415,Allen Nicholas M1415,Conroy Judith15,Ben Zeev Bruria16,Tzadok Michal17,Korff Christian18,Dubois Fanny19,Ramsey Keri2021,Narayanan Vinodh2021,Serratosa Jose M2223,Giraldez Beatriz G2223,Helbig Ingo2425,Marsh Eric24,O’Brien Margaret24,Bergqvist Christina A24,Binelli Adrian2627,Porter Brenda28,Zaeyen Eduardo29,Horovitz Dafne D30,Wolff Markus31,Marjanovic Dragan3,Caglayan Hande S32,Arslan Mutluay33,Pena Sergio D J34,Sisodiya Sanjay M35,Balestrini Simona35,Syrbe Steffen3637,Veggiotti Pierangelo12,Lemke Johannes R38,Møller Rikke S36,Lerche Holger4,Rubboli Guido339

Affiliation:

1. Brain and Behaviour Department, University of Pavia, Italy

2. Department of Child Neurology and Psychiatry, IRCCS C. Mondino National Neurological Institute, Pavia, Italy

3. Danish Epilepsy Centre, Dianalund, Denmark

4. Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Germany

5. Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark

6. Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark

7. Center for Individualized Medicine, Mayo Clinic, Scottsdale AZ, USA

8. Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA

9. Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA

10. Departments of Clinical Genomics and Neurology Mayo Clinic, Rochester, MN, USA

11. Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany

12. German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany

13. Epilepsy Center Kork, Kehl, Germany

14. Department of Neurology and Clinical Neurophysiology, Children’s University Hospital, Temple Street, Dublin, Ireland

15. Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland

16. Sackler school of medicine Tel Aviv University, Tel Aviv, Israel

17. Pediatric Neurology Unit, Sheba Medical Center, Israel

18. Pediatric Neurology University Hospitals, Geneva, Switzerland

19. Pediatric Departement, Grenoble CHU, France

20. Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA

21. Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA

22. Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain

23. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

24. Division of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, USA

25. Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Germany

26. Department of Pediatric Neurology, Elizalde Children's Hospital, Buenos Aires, Argentina

27. Sociedad Argentina de Neurología Infantil (SANI) / Argentinian Child Neurology Society

28. Department of Neurology and Neurological Sciences, Stanford University, Palo Alto California, USA

29. Neuropediatrics Committee of State of Rio De Janeiro, Rio De Janeiro, Brazil

30. Medical Genetics Department, National Institute for Women, Children and Adolescents Health Fernandes Figueira – Fiocruz, Rio de Janeiro, Brazil

31. Department of Pediatric Neurology and Developmental Medecine, University Children’s Hospital, Tübingen, Germany

32. Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey

33. Department of Pediatric Neurology, Gulhane Military Medical School, Ankara, Turkey

34. GENE – Núcleo de Genética Médica, Belo Horizonte, MG, Brazil

35. Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology and Epilepsy Society, UK

36. Department of General Paediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

37. Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Leipzig, Germany

38. University of Leipzig Hospitals and Clinics, Leipzig, Germany

39. University of Copenhagen, Copenhagen, Denmark

Funder

German Research Foundation

European Science Foundation

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

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