Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Author:

Syrbe Steffen1,Harms Frederike L2,Parrini Elena3,Montomoli Martino3,Mütze Ulrike1,Helbig Katherine L4,Polster Tilman5,Albrecht Beate6,Bernbeck Ulrich7,van Binsbergen Ellen8,Biskup Saskia9,Burglen Lydie1011,Denecke Jonas12,Heron Bénédicte1113,Heyne Henrike O14,Hoffmann Georg F1,Hornemann Frauke15,Matsushige Takeshi16,Matsuura Ryuki17,Kato Mitsuhiro18,Korenke G Christoph19,Kuechler Alma6,Lämmer Constanze20,Merkenschlager Andreas15,Mignot Cyril2122,Ruf Susanne23,Nakashima Mitsuko24,Saitsu Hirotomo25,Stamberger Hannah262728,Pisano Tiziana3,Tohyama Jun29,Weckhuysen Sarah262728,Werckx Wendy30,Wickert Julia231,Mari Francesco3,Verbeek Nienke E8,Møller Rikke S3233,Koeleman Bobby8,Matsumoto Naomichi24,Dobyns William B3435,Battaglia Domenica36,Lemke Johannes R14,Kutsche Kerstin2,Guerrini Renzo331

Affiliation:

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

2. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

3. Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children’s Hospital, University of Florence, Florence, Italy

4. Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA

5. Bethel Epilepsy Center – Krankenhaus Mara GmbH Bielefeld, Germany

6. Institut für Humangenetik, Universitaetsklinikum Essen, Universitaet Duisburg-Essen, Germany

7. Rems-Murr-Kliniken GmbH, Klinik für Kinder- und Jugendmedizin, Winnenden, Germany

8. Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands

9. CeGaT-Center for Genomics and Transcriptomics GmbH, Tuebingen, Germany

10. Centre de référence des Malformations et maladies congénitales du cervelet and Département de Génétique et embryologie médicales, AP-HP, GHUEP, Hôpital Trousseau 75012 Paris, France

11. GRC ConCer-LD, Sorbonne Universités, UPMC Univ 06, Paris, France

12. Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

13. AP-HP, Hôpital Trousseau, Service de Neurologie Pédiatrique; Paris, France

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

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

16. Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan

17. Division of Neurology, Saitama Children's Medical Center, Saitama, Japan

18. Department of Pediatrics, Showa University School of Medicine, Hatanodai, Shinagawa-ku, Tokyo, Japan

19. Klinikum Oldenburg, Zentrum für Kinder- und Jugendmedizin, Klinik für Neuropaediatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany

20. St. Bernward Krankenhaus, Hildesheim, Germany

21. AP-HP, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France

22. GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France

23. Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tübingen, Germany

24. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

25. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan

26. Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium

27. Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium

28. Division of Neurology; Antwerp University Hospital, Antwerp, Belgium

29. Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Niigata, Japan

30. Jessa Hospital, Hasselt, Belgium

31. IRCCS Stella Maris Foundation, Pisa, Italy

32. Danish Epilepsy Centre, Dianalund, Denmark

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

34. Departments of Pediatrics and Neurology, University of Washington, Seattle, Washington, USA

35. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA

36. Child Neurology and Psychiatry Unit, Catholic University, Largo Gemelli 18, Rome, Italy

Funder

Deutsche Forschungsgemeinschaft

EU 7th Framework Programme

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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