In response to: Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer : Regarding our manuscript: 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%2F00064165%3A_____%2F22%3A10434528" target="_blank" >RIV/00064165:_____/22:10434528 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/22:10434528 RIV/00216208:11110/22:10434528 RIV/00216208:11130/22:10434528
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=vEu40x0hc" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=vEu40x0hc</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10048-021-00677-y" target="_blank" >10.1007/s10048-021-00677-y</a>
Alternative languages
Result language
angličtina
Original language name
In response to: Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer : Regarding our manuscript: 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
We are thankful for this opportunity to provide a more detailed description and we would like to respond to the questions raised by Prof. Finsterer. The authors acknowledge the need for a more detailed description of the clinical examinations and laboratory tests. The diagnosis of MID is often difficult and symptoms are highly variable and this is the main reason why we wanted to present this case-to demonstrate the utility of performing exome sequencing.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2022
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
1364-6753
Volume of the periodical
23
Issue of the periodical within the volume
1
Country of publishing house
DE - GERMANY
Number of pages
2
Pages from-to
67-68
UT code for WoS article
000722820500002
EID of the result in the Scopus database
2-s2.0-85119968160