Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Author:

Dejanovic Borislav1,Djémié Tania23,Grünewald Nora1,Suls Arvid234,Kress Vanessa1,Hetsch Florian5,Craiu Dana67,Zemel Matthew8,Gormley Padhraig9101112,Lal Dennis1314,Myers Candace T8,Mefford Heather C8,Palotie Aarno912151617,Helbig Ingo1819,Meier Jochen C5,De Jonghe Peter2320,Weckhuysen Sarah232122,Schwarz Guenter11011,

Affiliation:

1. Department of Chemistry Institute of Biochemistry University of Cologne Cologne Germany

2. Neurogenetics Group Department of Molecular Genetics VIB Antwerp Belgium

3. Laboratory of Neurogenetics Institute Born‐Bunge University of Antwerp Antwerp Belgium

4. GENOMED Center for Medical Genetics University of Antwerp Antwerp Belgium

5. Division Cell Physiology Zoological Institute Technische Universität Braunschweig Braunschweig Germany

6. Pediatric Neurology Clinic Al Obregia Hospital Bucharest Romania

7. Department of Neurology, Pediatric Neurology, Psychiatry, Child and Adolescent Psychiatry, and Neurosurgery Carol Davila University of Medicine and Pharmacy Bucharest Romania

8. Division of Genetic Medicine Department of Pediatrics University of Washington Seattle WA USA

9. Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Hinxton UK

10. Center for Molecular Medicine Cologne (CMMC) University of Cologne Cologne Germany

11. Cologne Excellence Cluster on Cellular Stress Responses in Aging‐Associated Diseases (CECAD) University of Cologne Cologne Germany

12. Psychiatric & Neurodevelopmental Genetics Unit Department of Psychiatry Massachusetts General Hospital and Harvard Medical School Boston MA USA

13. Cologne Center for Genomics Cologne Excellence Cluster on Cellular Stress Responses in Aging‐Associated Diseases (CECAD) University of Cologne Cologne Germany

14. Department of Neuropediatrics University Medical Faculty Giessen and Marburg Giessen Germany

15. Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland

16. Program in Medical and Population Genetics The Broad Institute of MIT and Harvard Cambridge MA USA

17. The Stanley Center for Psychiatric Research The Broad Institute of MIT and Harvard Cambridge MA USA

18. Department of Neuropediatrics University Medical Center Schleswig‐Holstein Christian Albrechts University Kiel Germany

19. Division of Neurology The Children's Hospital of Philadelphia Philadelphia PA USA

20. Division of Neurology Antwerp University Hospital Antwerp Belgium

21. Inserm U 1127 CNRS UMR 7225 Sorbonne Universités UPMC Univ Paris 06 UMR S 1127 Institut du Cerveau et de la Moelle épinière, ICM Paris France

22. Centre de reference épilepsies rares Epilepsy unit AP‐HP Groupe hospitalier Pitié‐Salpêtrière F‐75013 Paris France

Publisher

EMBO

Subject

Molecular Medicine

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