Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

ConclusionsEEF1A2 should be considered as a causative gene not only in cases of epileptic encephalopathy but also in children with less severe epilepsy and intellectual disability. The emergence of a possible discernible phenotype, a broad nasal bridge, tented upper lip, everted lower lip and downturned corners of the mouth may help in identifying patients with mutations in EEF1A2.

Exome sequencing has led to the discovery of mutations in novel causative genes for epilepsy. One such gene is EEF1A2, 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; in one case the disorder is much less severe than in previously described individuals.

Source: Molecular Genetics & Genomic Medicine - April 2, 2016 Category: Genetics & Stem Cells Authors: Wayne W.K. Lam, John J. Millichap, Dinesh C. Soares, Richard Chin, Ailsa McLellan, David R. FitzPatrick, Frances Elmslie, Melissa M. Lees, G. Bradley Schaefer, , Catherine M. Abbott Tags: Original Article Source Type: research