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EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay Cover

EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay

Balkan Journal of Medical Genetics
Volume 26 (2023): Issue 2 (December 2023)
By: M Sleptsova,  C Georgiev,  S Atemin,  P Dimova,  D Avdjieva-Tzavella,  G Tacheva,  I Litvinenko,  L Grozdanova,  T Todorov,  V Mitev and  A Todorova  
Open Access
|Mar 2024

Figures & Tables

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).
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).
DOI: https://doi.org/10.2478/bjmg-2023-0019 | Journal eISSN: 2199-5761
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Language: English
Page range: 65 - 68
Published on: Mar 12, 2024
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Whole Exome Sequencing,
Epilepsy,
Novel genetic variant,
Ophthalmological Anomalies,
Neurodevelopmental Delay
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2024 M Sleptsova, C Georgiev, S Atemin, P Dimova, D Avdjieva-Tzavella, G Tacheva, I Litvinenko, L Grozdanova, T Todorov, V Mitev, A Todorova, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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