Compound heterozygous variants of the NARS2 gene in siblings with refractory seizures: two case report and literature review

BackgroundBiallelic variants in NARS2 that encodes the mitochondrial asparaginyl-tRNA synthetase are associated with a wide spectrum of clinical phenotypes. Herein, we report on two siblings carrying the same compound heterozygous missense variants in NARS2, to improve the understanding of the pheno...

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Autores principales:	Heyan Wu, Min Zhou, Xiaoting Ye, Huabao Chen, Hongxin Lin, Li Wang, Xing Nie, Lidan Zhang
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2025-04-01
Colección:	Frontiers in Pediatrics
Materias:	combined oxidative phosphorylation deficiency 24 (COXPD24) NARS2 refractory epilepsy biallelic variants pediatric mitochondrial drug cocktail therapy
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fped.2025.1571426/full
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