Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability-Reference-Cited by-同舟云学术

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

Published:2016-04-03 Issue:4 Volume:4 Page:465-474
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Lam Wayne W.K.¹²³⁴,Millichap John J.⁵,Soares Dinesh C.²⁶,Chin Richard³⁴⁷,McLellan Ailsa⁴,FitzPatrick David R.⁴⁶,Elmslie Frances⁸,Lees Melissa M.⁹,Schaefer G. Bradley¹⁰,Abbott Catherine M.²³,

Affiliation:

1. South East of Scotland Clinical Genetics Service; Crewe Road Edinburgh UK

2. Centre for Genomic & Experimental Medicine; MRC Institute of Genetics and Molecular Medicine; University of Edinburgh; Western General Hospital; Crewe Road Edinburgh EH4 2XU UK

3. Muir Maxwell Epilepsy Centre; University of Edinburgh; 20 Sylvan Place Edinburgh EH9 1UW UK

4. Paediatric Neurosciences; Royal Hospital for Sick Children; Sciennes Road Edinburgh EH9 1LF UK

5. Epilepsy Center; Departments of Pediatrics and Neurology; Ann & Robert H. Lurie Children's Hospital of Chicago; Northwestern University Feinberg School of Medicine; 225 E Chicago Ave Box #29 Chicago Illinois 60611

6. MRC Human Genetics Unit; MRC Institute of Genetics and Molecular Medicine; University of Edinburgh; Western General Hospital; Crewe Road Edinburgh EH4 2XU UK

7. Child Life and Health; University of Edinburgh; 20 Sylvan Place Edinburgh EH9 1UW UK

8. South West Thames Regional Genetics Service; St George's Hospital; Tooting London UK

9. Department of Clinical Genetics; Great Ormond Street Hospital; Great Ormond Street London UK

10. Division of Medical Genetics; Arkansas Children's Hospital; Little Rock Arkansas

Funder

Health Innovation Challenge Fund

Wellcome Trust

Department of Health

National Institute for Health Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.219/fullpdf

Reference20 articles.

1. Crystal structures of nucleotide exchange intermediates in the eEF1A-eEF1Balpha complex;Andersen;Nat. Struct. Biol.,2001

2. The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1alpha, encoded by the Eef1a2 gene;Chambers;Proc Natl Acad Sci U S A,1998

3. Elongation factor 1 alpha, translation and the cytoskeleton;Condeelis;Trends Biochem. Sci.,1995

4. Mammalian translation elongation factor eEF1A2: X-ray structure and new features of GDP/GTP exchange mechanism in higher eukaryotes;Crepin;Nucleic Acids Res.,2014

5. Large-scale discovery of novel genetic causes of developmental disorders;Deciphering Developmental Disorders S;Nature,2015

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