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
- 20 August 2021
- journal article
- review article
- Published by Springer Science and Business Media LLC in neurogenetics
- Vol. 22 (4), 359-364
- https://doi.org/10.1007/s10048-021-00659-0
Abstract
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.Funding Information
- Ministerstvo Zdravotnictví Ceské Republiky (AZV NU20-04-00279)
- Ministerstvo Zdravotnictví Ceské Republiky (RVO-VFN 64165)
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