Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Biallelic mutations in valyl-tRNA synthetase gene <i>VARS</i> are associated with a progressive neurodevelopmental epileptic encephalopathy, Published online: 12 February 2019; doi:10.1038/s41467-018-07067-3

Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene that leave the enzyme activity partially intact.

from A via a.sfakia on Inoreader https://go.nature.com/2UUu9BH