1.
Neurogenetics
; 23(1): 67-68, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34837145
2.
Neurogenetics
; 22(4): 359-364, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34415467
RESUMO
Biallelic variants in the NARS2 gene are the cause of a continuous spectrum of neurodegenerative disorders presenting with various severity-from spastic paraplegia, progressive neurodegeneration to Leigh and Alpers syndrome. Common clinical signs result from a mitochondrial dysfunction based on OXPHOS deficiency. Here, we present a patient with infantile-onset severe epilepsy leading to fatal refractory status epilepticus. Whole exome sequencing with Exomiser analysis based on HPO terms detected two novel NARS2 variants in a compound heterozygous state. To date, 18 different NARS2 disease-causing mutations have been described. Our study adds to the understanding of this mitochondrial disorder.