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
2022
Abstrakt
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.