A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders
Denise Chan, Joëlle Rudinger‐Thirion, Magali Frugier, Lisa G. Riley, Gladys Ho, Kavitha Kothur, Shekeeb S. Mohammad
Topics & Concepts
EpilepsyAminoacyl tRNA synthetaseMicrocephalyAtrophyAminoacylationLevetiracetamMedicinePhenotypeCompound heterozygosityCarbamazepinePediatricsTransfer RNAInternal medicineGeneticsBiologyPsychiatryGeneRNARNA and protein synthesis mechanismsRNA regulation and diseaseGenomics and Rare Diseases