EEF1A2 mutations in epileptic encephalopathy/intellectual disability: Understanding the potential mechanism of phenotypic variation.

This study highlights the potential genotype-phenotype relationship in EEF1A2 and facilitates the evaluation of the pathogenicity of EEF1A2 mutations in clinical practice.
PMID: 32062104 [PubMed - as supplied by publisher]

Source: Epilepsy and Behaviour - February 12, 2020 Category: Neurology Authors: Long K, Wang H, Song Z, Yin X, Wang Y Tags: Epilepsy Behav Source Type: research