Special Issue: Translating Multiscale Research in Rare Disease
A MODEL FOR LIFE
THE PATIENT'S VOICE
Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder
Summary: A mouse model carrying the pathogenic E122K mutation in Eef1a2 exhibits electrographic seizures and early motor abnormalities. Comparative phenotyping reveals a toxic gain-of-function or possible dominant-negative effect.
Editor's choice: Applying physiological mechanical stress to a human induced pluripotent stem cell model of Duchenne muscular dystrophy-related cardiomyopathy produces a biomarker signature similar to that seen in patients.