Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

BACKGROUND: Exome sequencing has led to the discovery of mutations in novel causative genes for epilepsy. One such gene is EEF1A2, encoding a neuromuscular specific translation elongation factor, which has been found to be mutated de novo in five cases of severe epilepsy. We now report on a further...

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Detalles Bibliográficos
Autores principales: Lam, Wayne W.K., Millichap, John J., Soares, Dinesh C., Chin, Richard, McLellan, Ailsa, FitzPatrick, David R., Elmslie, Frances, Lees, Melissa M., Schaefer, G. Bradley, Abbott, Catherine M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947865/
https://www.ncbi.nlm.nih.gov/pubmed/27441201
http://dx.doi.org/10.1002/mgg3.219

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947865/
https://www.ncbi.nlm.nih.gov/pubmed/27441201
http://dx.doi.org/10.1002/mgg3.219

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