PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

Author:

Dafsari Hormos Salimi123ORCID,Pemberton Joshua G.4,Ferrer Elizabeth A.4,Yammine Tony5,Farra Chantal56,Mohammadi Mohammad Hasan7,Ghayoor Karimiani Ehsan89,Hashemi Narges10,Souaid Mirna5,Sabbagh Sandra6,Najarzadeh Torbati Paria9,Khan Suliman11,Roze Emmanuel1213,Moreno‐De‐Luca Andres14ORCID,Bertoli‐Avella Aida M.11,Houlden Henry15,Balla Tamas4,Maroofian Reza15ORCID

Affiliation:

1. Department of Pediatrics Faculty of Medicine and University Hospital Cologne, University of Cologne Kerpener Str. 62 50937 Köln Germany

2. Max‐Planck‐Institute for Biology of Ageing and CECAD Cologne Germany

3. Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust London UK

4. Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver NICHD National Institutes of Health Bethesda Maryland USA

5. Medical Genetics Unit Saint Joseph University Beirut Lebanon

6. Department of Genetics Hotel Dieu de France Medical Center Beirut Lebanon

7. Department of Pediatrics Zabol University of Medical Sciences Zabol Iran

8. Molecular and Clinical Sciences Institute St. George's, University of London Cranmer Terrace London UK

9. Department of Medical Genetics Next Generation Genetic Polyclinic Mashhad Iran

10. Department of Pediatric Neurology, Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran

11. CENTOGENE GmbH Rostock Germany

12. CNRS, INSERM, Institut du Cerveau (ICM) Sorbonne Université Paris 75013 France

13. DMU Neurosciences Hôpital de la Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris Paris 75013 France

14. Department of Radiology, Diagnostic Medicine Institute Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger Danville Pennsylvania USA

15. Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology Queen Square London UK

Funder

Deutsche Forschungsgemeinschaft

Wellcome Trust

Universität zu Köln

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

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