RARS2-associated developmental epileptic encephalopathies are caused by variants that functionally impair both copies of this gene. The RARS2 protein plays an important role in mitochondrial metabolism. Variants that reduce or disrupt that function thus hinder mitochondrial energy production - particularly in the brain - resulting in seizures, developmental delays, and other neurological symptoms. A diagnosis is typically established through genetic testing that identifies a pathogenic variant in each copy of RARS2.
RARS2