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

• Main Authors: Nuo Yang (Author), Limin Chen (Author), Yanfeng Zhang (Author), Xuemei Wu (Author), Yunpeng Hao (Author), Fan Yang (Author), Zuozhen Yang (Author), Jianmin Liang (Author)
• Format: Book
• Published: BMC, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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. Case presentation Detailed clinica...