Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
rs1555883505 in
EEF1A2 gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
PMID 28378778 2017 Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice.
PMID 28911200 2017 Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.
PMID 23647072 2013 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 26682508 2016 Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations.
PMID 27441201 2016 Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
PMID 3066688 1988 Mutations in elongation factor EF-1 alpha affect the frequency of frameshifting and amino acid misincorporation in Saccharomyces cerevisiae.
PMID 24697219 2015 De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.