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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064203:_____/22:10434528 RIV/00216208:11110/22:10434528 RIV/00216208:11130/22:10434528

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Neurogenetics

ISSN

1364-6745

e-ISSN

1364-6753

Svazek periodika

23

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

2

Strana od-do

67-68

Kód UT WoS článku

000722820500002

EID výsledku v databázi Scopus

2-s2.0-85119968160