Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice

(2017) Faith C. J. Davies et al.   Scientific Reports

Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations

(2016) Takehiko Inui et al.   BRAIN & DEVELOPMENT

Novel de novoEEF1A2missense mutations causing epilepsy and intellectual disability

(2016) Wayne W.K. Lam et al.   Molecular Genetics & Genomic Medicine

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

(2016) Carolien G.F. de Kovel et al.   Molecular Genetics & Genomic Medicine

Whole Exome Sequencing IdentifiesRAI1Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome

(2015) Vidhu V. Thaker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

De novo EEF1A2mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

(2014) J. Nakajima et al.   CLINICAL GENETICS

Out with the old, in with the new: reassessing morpholino knockdowns in light of genome editing technology

(2014) S. Schulte-Merker et al.   DEVELOPMENT

Highly homologous eEF1A1 and eEF1A2 exhibit differential post-translationalmodification with significant enrichment around localised sites of sequence variation

(2013) Dinesh C Soares et al.   Biology Direct

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE