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
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F21%3A10430128" target="_blank" >RIV/00216208:11130/21:10430128 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/21:10430128 RIV/00064203:_____/21:10430128 RIV/00064165:_____/21:10430128
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=QhRbVSu~a" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=QhRbVSu~a</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10048-021-00659-0" target="_blank" >10.1007/s10048-021-00659-0</a>
Alternative languages
Result language
angličtina
Original language name
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
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/NU20-04-00279" target="_blank" >NU20-04-00279: Epilepsy genetics: To solve unsolvable cases with combined OMICs tools</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neurogenetics
ISSN
1364-6745
e-ISSN
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Volume of the periodical
22
Issue of the periodical within the volume
4
Country of publishing house
DE - GERMANY
Number of pages
6
Pages from-to
359-364
UT code for WoS article
000686837000001
EID of the result in the Scopus database
2-s2.0-85113155822