Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

ABSTRACT:

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 and sequenced through the Deciphering Developmental Disabilities project, via direct contact with neurologists or geneticists, or recruited via our website.

Results

All the mutations cause epilepsy and intellectual disability, but with a much wider range of severity than previously identified. All new cases share specific subtle facial dysmorphic features. Each m

SUBMITTER: Lam WW 

PROVIDER: S-EPMC4947865 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature