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 https://rarediseases.org/rare-diseases/eef1a2-related-neurodevelopmental-disorder/
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: https://www.youtube.com/watch?v=mQpy7BCNAuE
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):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
Iossifov et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014; 515(7526):216-21.link 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.