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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

Authors

M Sleptsova

milasleptsova99@gmail.com

Genetic Medico-Diagnostic Laboratory “Genica”, Sofia, Bulgaria
Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria

C Georgiev

ULB Neuroscience Institute, Université libre de Bruxelles (ULB), Brussels, Belgium

S Atemin

Genetic Medico-Diagnostic Laboratory “Genica”, Sofia, Bulgaria

P Dimova

St. Ivan Rilski University Hospital, Sofia, Bulgaria

D Avdjieva-Tzavella

Department of Clinical Genetics, University Pediatric Hospital, Sofia, Bulgaria

G Tacheva

Department of Pediatrics, Medical University of Sofia, Sofia, Bulgaria
Specialized Hospital for Active Treatment of Children’s Diseases “prof. Ivan Mitev”, Sofia, Bulgaria

I Litvinenko

Department of Pediatrics, Medical University of Sofia, Sofia, Bulgaria
Specialized Hospital for Active Treatment of Children’s Diseases “prof. Ivan Mitev”, Sofia, Bulgaria

L Grozdanova

Genetic Medico-Diagnostic Laboratory “Genica”, Sofia, Bulgaria

T Todorov

Genetic Medico-Diagnostic Laboratory “Genica”, Sofia, Bulgaria

V Mitev

Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria

A Todorova

Genetic Medico-Diagnostic Laboratory “Genica”, Sofia, Bulgaria
Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria
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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