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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2017
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| Materias: | |
| 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 |