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Article

Novel de novo <i><scp>EEF</scp>1A2</i> missense mutations causing epilepsy and intellectual disability

3 Apr 2016

Abstract excerpt

BACKGROUND: Exome sequencing has led to the discovery of mutations in novel causative genes for epilepsy. One such gene is EEF1A2, encoding a neuromuscular specific translation elongation factor, which has been found to be mutated de novo in five cases of severe epilepsy. We now report on a further seven cases, each with a different mutation, of which five are newly described. METHODS: New cases were identified...

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PMID: 27441201
DOI: 10.1002/mgg3.219

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