Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Curtis R CoughlinGunter H ScharerMarisa W FriederichHung-Chun YuElizabeth A GeigerGeralyn Creadon-SwindellAbigail E CollinsArnaud V VanlanderRudy Van CosterChristopher A PowellMichael A SwansonMichal MinczukJohan L K Van HoveTamim H ShaikhPublished in: Journal of medical genetics (2015)
Our findings indicate that mutations in CARS2 result in a mitochondrial translational defect as seen in individuals with mitochondrial epileptic encephalopathy.