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Journals
Balkan Journal of Medical Genetics
Volume 26 (2023): Issue 2 (December 2023)
Open Access
EPHA4
Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay
M Sleptsova
M Sleptsova
,
C Georgiev
C Georgiev
,
S Atemin
S Atemin
,
P Dimova
P Dimova
,
D Avdjieva-Tzavella
D Avdjieva-Tzavella
,
G Tacheva
G Tacheva
,
I Litvinenko
I Litvinenko
,
L Grozdanova
L Grozdanova
,
T Todorov
T Todorov
,
V Mitev
V Mitev
and
A Todorova
A Todorova
| Mar 12, 2024
Balkan Journal of Medical Genetics
Volume 26 (2023): Issue 2 (December 2023)
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Article Category:
Case Report
Published Online:
Mar 12, 2024
Page range:
65 - 68
DOI:
https://doi.org/10.2478/bjmg-2023-0019
Keywords
Whole Exome Sequencing
,
Epilepsy
,
Novel genetic variant
,
Ophthalmological Anomalies
,
Neurodevelopmental Delay
© 2023 M Sleptsova et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Figure 1.
The genetic variant found in our patient and reported genetic variants presented in relation to the Epha4 protein domains. Above the protein domains are shown the genetic variant found in our patient (marked with *) and the likely pathogenic variant reported in ClinVar (marked with -), and below the protein domains - the somatic genetic variants reported by Light et al. (2). Domain names are the following: LBD – Ligand Binding Domain; FNIII – Fibronectin type III domain; TD – Transmembrane Domain and TKD – Tyrosine Kinase Domain. The protein domain structure is created based on MetaDome (9).