This is the homepage for eEF1A2 information hosted by Cathy Abbott’s lab at the IGMM, University of Edinburgh. The gene encoding eEF1A2 has been found to be mutated in a small number of individuals with severe intellectual difficulties, intractable epilepsy and autism. We want this to be a useful resource for scientists, clinicians and families. You can follow us on Twitter @CathyAbbottLab
EEF1A2 Patient Registry
Thanks to AltaVoice (formerly Patient Crossroads) we have been able to set up a patient registry for EEF1A2, initially focusing on a survey on seizures. More surveys will be added over time. You can find the registry here at the Invitae Patients Information Network.
Registries are really important for research, so that we can begin to look at the different mutations and collect information on their effects. In this way we will be better able to predict which mutations are likely to be milder and which more severe. With your help, we will be able to track outcomes, pull together information about which drugs help and which don’t, and ultimately design better therapeutic strategies and develop new drugs. Registries are also used as a way of recruiting patients for clinical trials.
Mutations in EEF1A2
Below is a list of the clinically important mutations we know of so far. I will keep this updated as new mutations are found/published. As you can see, many are still unique.
|Mutation||Number of cases
|G70S||6||De Ligt, Veeramah, Helbig, Lam|
|E122K||4||Nakajima, Lam, Inui|
|A125E||1||Facebook (personal communication)|
|R266W||3||Helbig, DDD, Facebook (personal communication)|
|G384R||1||Facebook (personal communication)|
Veeramah et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013;54(7):1270-81.link to paper
de Ligt et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367(20):1921-9.link to paper
Lam et al. Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. Molecular Genetics & Genomic Medicine 2016.link to paper
Lopes et al. Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet 2016;53(3):190-9.link to paper
Nakajima et al. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. Clin Genet 2015;87(4):356-61.link to paper
Inui et al. Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. Brain & development 2016;38(5):520-4.link to paper
Helbig et al poster
Iossifov et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014; 515(7526):216-21.link to paper
The picture below is a 3D model of the eEF1A2 molecule with the binding sites for other molecules colour coded. You can read more about this in our paper here.