Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Author:

Carvill Gemma L.1ORCID,Helbig Katherine L.23ORCID,Myers Candace T.4,Scala Marcello56,Huether Robert7,Lewis Sara89,Kruer Tyler N.89,Guida Brandon S.89,Bakhtiari Somayeh89,Sebe Joy1011,Tang Sha7,Stickney Heather11,Oktay Sehribani Ulusoy1011,Bhandiwad Ashwin A.11,Ramsey Keri12,Narayanan Vinodh12,Feyma Timothy13,Rohena Luis O.1415,Accogli Andrea616,Severino Mariasavina5,Hollingsworth Georgina17,Gill Deepak18,Depienne Christel19,Nava Caroline19,Sadleir Lynette G.20,Caruso Paul A.21,Lin Angela E.22,Jansen Floor E.23,Koeleman Bobby23,Brilstra Eva24,Willemsen Marjolein H.25,Kleefstra Tjitske25,Sa Joaquim26,Mathieu Marie‐Laure2728,Perrin Laurine29,Lesca Gaetan3031,Striano Pasquale56,Casari Giorgio56,Scheffer Ingrid E.17,Raible David1011,Sattlegger Evelyn32,Capra Valeria5,Padilla‐Lopez Sergio89,Mefford Heather C.4,Kruer Michael C.89

Affiliation:

1. Ken and Ruth Davee Department of NeurologyNorthwestern UniversityChicago Illinois

2. Division of NeurologyChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania

3. The Epilepsy NeuroGenetics InitiativeChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania

4. Division of Genetic Medicine, Department of PediatricsSeattle Washington

5. Department of Pediatric Neurology & Muscular DisordersIRCCS Istituto Giannina Gaslini, Via Gerolamo GasliniGenoa Italy

6. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child HealthUniversità degli Studi di GenovaGenoa Italy

7. Division of Clinical GenomicsAmbry GeneticsAliso Viejo California

8. Barrow Neurological Institute, Department of NeurologyPhoenix Children's HospitalPhoenix Arizona

9. Departments of Child Health, Cellular & Molecular Medicine, and Neurology and Program in GeneticsUniversity of Arizona College of Medicine PhoenixPhoenix Arizona

10. Department of BiologyUniversity of WashingtonSeattle Washington

11. Department of Biological StructureUniversity of WashingtonSeattle Washington

12. Center for Rare Childhood DisordersTranslational Genomics Research InstitutePhoenix Arizona

13. Department of NeurologyGillette Children's Specialty HealthcareSt. Paul Minnesota

14. Department of Pediatrics, Division of GeneticsSan Antonio Military Medical CenterSan Antonio Texas

15. Department of Pediatrics, Long School of MedicineUniversity of TexasSan Antonio Texas

16. Medical Genetics UnitIRCCS Ospedale Policlinico San MartinoGenoa Italy

17. Departments of Medicine and PaediatricsUniversity of Melbourne and Austin Health Royal Children's HospitalMelbourne Australia

18. Ty Nelson Department of NeurologyThe Children's Hospital at WestmeadSydney New South Wales Australia

19. INSERM UMR 975, Institut du Cerveau et de la Moelle EpinièreHôpital Pitié‐SalpêtrièreParis France

20. Department of Paediatrics and Child HealthUniversity of Otago WellingtonWellington South New Zealand

21. Department of Radiology, Massachusetts General HospitalHarvard Medical SchoolBoston

22. Medical Genetics, Department of Pediatrics, MassGeneral Hospital for ChildrenHarvard Medical SchoolBoston Massachusetts

23. Department of Pediatric NeurologyUniversity Medical CenterUtrecht The Netherlands

24. Department of GeneticsUtrecht UniversityUtrecht The Netherlands

25. Department of Human GeneticsRadboud University Medical CenterNijmegen The Netherlands

26. Serviço de Genética MédicaCentro Hospitalar e Universitário de CoimbraCoimbra Portugal

27. Neuropaediatrics DepartmentFemme Mère Enfant HospitalLyon France

28. Claude Bernard Lyon 1 UniversityLyon France

29. Department of Paediatric Physical Medicine and Rehabilitation, CHU Saint‐EtienneHôpital BellevueSaint‐Étienne France

30. CRNL Inserm U1028‐CNRS UMR5292–Claude Bernard University Lyon 1Lyon France

31. Department of Medical GeneticsLyon University HospitalLyon France

32. School of Natural & Computational SciencesMassey UniversityAuckland New Zealand

Funder

NIH/NINDS

NHRMC

Doris Duke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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