Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review

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 OXPH...

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Bibliographic Details
Published in:Neurogenetics 2021-10, Vol.22 (4), p.359-364
Main Authors: Štěrbová, K., Vlčková, M., Hansíková, H., Sebroňová, V., Sedláčková, L., Pavlíček, P., Laššuthová, Petra
Format: Article
Language:English
Subjects:
Age of Onset
Aspartate-tRNA Ligase - genetics
Biomedical and Life Sciences
Biomedicine
Biopsy
Convulsions & seizures
Epilepsy
Epilepsy - diagnosis
Epilepsy - genetics
Hereditary spastic paraplegia
Hospitals
Human Genetics
Humans
Infant, Newborn
Literature reviews
Medicine
Mitochondria
Mitochondrial Diseases - genetics
Molecular Medicine
Mutation
Mutation - genetics
Neurodegeneration
Neurodegenerative diseases
Neurology
Neurosciences
Short Communication
Transfer RNA
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Summary: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.
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-021-00659-0