Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy-Reference-Cited by-同舟云学术

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

Published:2020-04-06 Issue:7 Volume:41 Page:1263-1279
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Carvill Gemma L.¹^ORCID,Helbig Katherine L.²³^ORCID,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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24015

Reference48 articles.

1. Characterization of the statin‐like S1 and rat elongation factor 1 alpha as two distinctly expressed messages in rat;Ann D. K.;Journal of Biological Chemistry,1992

2. Sequence and structure-based prediction of eukaryotic protein phosphorylation sites

3. Tetrahymena Eukaryotic Translation Elongation Factor 1A (eEF1A) Bundles Filamentous Actin through Dimer Formation

4. Chapter 8 Monitoring Mitophagy in Yeast

5. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

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