Useful links


Thanks to lobbying from Christine Simpson and a lot of help from my colleague Richard Chin we now have an entry on the NORD rare disease platform


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

Lance EI, Kronenbuerger M, Cohen JS, Furmanski O, Singer HS, Fatemi A. Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant. SAGE Open Med Case Rep. 2018 Oct 24;6:2050313X18807622.

Kaur S, Van Bergen NJ, Gold WA, Eggers S, Lunke S, White SM, et al. Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient. Clin Case Rep. 2019 Dec;7(12):2476–2482.

De Rinaldis M, Giorda R, Trabacca A. Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review. Brain Dev. 2020 Jan;42(1):77–82.

Carvill GL, Helbig KL, Myers CT, Scala M, Huether R, Lewis S, et al. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. Hum Mutat. 2020 Jul;41(7):1263–1279.

Kaneko M, Rosser T, Raca G. Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder. Eur J Med Genet. 2020 Dec 8;104121.