Useful links


An interview with Cathy by the wonderful Torie Robinson of Epilepsy Sparks Insights is now available on YouTube and Spotify with lots of mentions of eEF1A2:


A public lecture given by Cathy and Richard Chin in March 2017 that includes discussion of research on eEF1A2: Epilepsy: is the genetic revolution friend or foe?

Beyond the ion channel, the blog of EuroEpinomics

Epilepsy and inheritance (lay guide)

Muir Maxwell Centre and our page on it, under pre-clinical research.

Simons Initiative for the Developing Brain

The Contact a Family website has a really good page explaining inheritance and what happens in a genetics clinic in addition to being a general resource for finding support.

Academic papers on EEF1A2 and neurodevelopmental disorders:

Veeramah et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013;54(7) to paper

de Ligt et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367(20) to paper

Lam et al. Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. Molecular Genetics & Genomic Medicine to paper

Lopes et al. Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet 2016;53(3) 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) 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) to paper

Iossifov  et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014; 515(7526) to paper

F.McLachlan, A.Martinez Sires and C.M.Abbott. The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders. Human Mutation 40(2):131-141 (2019) link to paper

C.M.Abbott. Precision medicine in epilepsy- the way forward? ACS Chem. Neurosci. 10 (4), pp 2080–2081 (2019) link to paper