Alix Paulet

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Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study - European Journal of Human Genetics

Apr 2, 2024 | nature.com | Alix Paulet |Andrew Green |Rosalyn Jewell |Minna Kraatari-Tiri |Juliette Piard |Wayne Lam | +11 more

Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-024-01560-8, published online 15 February 2024In the original version of this article, the given and family names of Samuel Groeschel were incorrectly structured. The name was displayed correctly in all versions at the time of publication.
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study - European Journal of Human Genetics

Feb 14, 2024 | nature.com | Andrew Green |Rosalyn Jewell |Minna Kraatari-Tiri |Juliette Piard |Wayne Lam |Francis Ramond | +11 more

AbstractTranslation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting EEF1A2 have been described in 42 individuals with a severe neurodevelopmental phenotype including epileptic encephalopathy and moderate to profound intellectual disability (ID), with neurological regression in some patients.

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