Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice

De novo heterozygous missense mutations in the gene encoding translation elongation factor eEF1A2 have recently been found to give rise to neurodevelopmental disorders. Children with mutations in this gene have developmental delay, epilepsy, intellectual disability and often autism; the most frequen...

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Detalles Bibliográficos
Autores principales: Davies, Faith C. J., Hope, Jilly E., McLachlan, Fiona, Nunez, Francis, Doig, Jennifer, Bengani, Hemant, Smith, Colin, Abbott, Catherine M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5380952/
https://www.ncbi.nlm.nih.gov/pubmed/28378778
http://dx.doi.org/10.1038/srep46019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5380952/
https://www.ncbi.nlm.nih.gov/pubmed/28378778
http://dx.doi.org/10.1038/srep46019

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