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Open Access 01-12-2024 | Epilepsy | Case Report

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

Authors: Nuo Yang, Limin Chen, Yanfeng Zhang, Xuemei Wu, Yunpeng Hao, Fan Yang, Zuozhen Yang, Jianmin Liang

Published in: BMC Pediatrics | Issue 1/2024

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 clinical phenotypes were collected and the NARS2 variants were discovered by whole exome sequencing and verified by Sanger sequencing. Additionally, 3D protein structure visualization was performed by UCSF Chimera. The proband in our study had early-onset status epilepticus with abnormal EEG and MRI results. She also performed global developmental delay (GDD) and myocardial dysfunction. Next-generation sequencing (NGS) and Sanger sequencing revealed compound heterozygous missense variants [NM_024678.6:exon14: c.1352G > A(p.Arg451His); c.707T > C(p.Phe236Ser)] of the NARS2 gene. The proband develops refractory epilepsy with GDD and hyperlactatemia. Unfortunately, she finally died for status seizures two months later.

Conclusion

We discovered two novel missense variants of NARS2 in a patient with early-onset status epilepticus and myocardial dysfunction. The NGS enables the patient to be clearly diagnosed as combined oxidative phosphorylation deficiency 24 (COXPD24, OMIM:616,239), and our findings expands the spectrum of gene variants in COXPD24.

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Title: Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review
Authors: Nuo Yang
Limin Chen
Yanfeng Zhang
Xuemei Wu
Yunpeng Hao
Fan Yang
Zuozhen Yang
Jianmin Liang
Publication date: 01-12-2024
Publisher: BioMed Central
Keywords: Epilepsy
Status Epilepticus
Published in: BMC Pediatrics / Issue 1/2024
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-024-04553-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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