Article

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review

2023-09-19

Abstract excerpt

<h4>Background: </h4> NARS2 as a member of aminoacyl-tRNA synthetases was necessary to covalently join a specific tRNA to its cognate amino acid. Biallelic variants in NARS2 were reported with disorders such as Leigh syndrome, deafness, epilepsy, and severe myopathy. <h4>Methods: </h4>: Detailed clinical phenotypes were collected and the NARS2 variants were discovered by whole exome sequencing and verified by San...

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Literature Corpus work: 582dd41f-11c2-5a6b-9477-409d4210179c
DOI: 10.21203/rs.3.rs-3290762/v1

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