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Acta Medica Bulgarica
Volume 49 (2022): Issue 2 (June 2022)
Open Access
Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the
NARS1
Gene
S. Atemin
S. Atemin
,
T. Todorov
T. Todorov
,
I. Tourtourikov
I. Tourtourikov
,
V. Mitev
V. Mitev
and
A. Todorova
A. Todorova
| Jul 11, 2022
Acta Medica Bulgarica
Volume 49 (2022): Issue 2 (June 2022)
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Published Online:
Jul 11, 2022
Page range:
48 - 50
Received:
Mar 03, 2022
Accepted:
Mar 31, 2022
DOI:
https://doi.org/10.2478/amb-2022-0020
Keywords
NARS1 gene
,
novel variants
,
whole exome sequencing
,
epilepsy
© 2022 S. Atemin et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
S. Atemin
Department of Medical Chemistry and Biochemistry, Medical University – Sofia
Bulgaria
Genetic Medico-Diagnostic Laboratory “Genica” – Sofia,
Bulgaria
T. Todorov
Genetic Medico-Diagnostic Laboratory “Genica” – Sofia,
Bulgaria
I. Tourtourikov
Department of Medical Chemistry and Biochemistry, Medical University – Sofia
Bulgaria
Genetic Medico-Diagnostic Laboratory “Genica” – Sofia,
Bulgaria
V. Mitev
Department of Medical Chemistry and Biochemistry, Medical University – Sofia
Bulgaria
A. Todorova
Department of Medical Chemistry and Biochemistry, Medical University – Sofia
Bulgaria
Genetic Medico-Diagnostic Laboratory “Genica” – Sofia,
Bulgaria