Interestingly, a recent report describes novel FARS2 mutations in two families with fatal intractable myoclonic epilepsy [20]; whilst the initial presenting symptom clearly correlates with our index case, there was no evidence of marked cerebral atrophy in our patient's brain MRI, which was a striking feature in the cases presented by these authors, although our patient did have structural brain abnormalities involving the corpus callosum and white matter abnormalities. Here, FARS2 is linked to myoclonic epilepsy.