Article

Early onset motor defects and electrographic seizures in a mouse model of the most common mutation in EEF1A2 related neurodevelopmental disorder, E122K

2023-09-07

Abstract excerpt

De novo heterozygous missense mutations in EEF1A2 , encoding neuromuscular translation-elongation factor eEF1A2, are associated with developmental and epileptic encephalopathies. We used CRISPR/ Cas9 to recapitulate the most common mutation, E122K, in mice. Although E122K/+ mice were not observed to have convulsive seizures, they exhibit frequent electrographic seizures and EEG abnormalities, transient early moto...

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Literature Corpus work: 70021ea4-71fc-52cb-af26-b7deb044aad6
DOI: 10.1101/2023.09.07.556644

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