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

M Sleptsova

M Sleptsova

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
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Sleptsova, M
, 
C Georgiev

C Georgiev

ULB Neuroscience Institute, Université libre de Bruxelles (ULB)Brussels, Belgium
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Georgiev, C
, 
S Atemin

S Atemin

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
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Atemin, S
, 
P Dimova

P Dimova

St. Ivan Rilski University HospitalSofia, Bulgaria
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Dimova, P
, 
D Avdjieva-Tzavella

D Avdjieva-Tzavella

Department of Clinical Genetics, University Pediatric HospitalSofia, Bulgaria
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Avdjieva-Tzavella, D
, 
G Tacheva

G Tacheva

  • Department of Pediatrics, Medical University of SofiaSofia, Bulgaria
  • Specialized Hospital for Active Treatment of Children’s Diseases “prof. Ivan Mitev”Sofia, Bulgaria
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Tacheva, G
, 
I Litvinenko

I Litvinenko

  • Department of Pediatrics, Medical University of SofiaSofia, Bulgaria
  • Specialized Hospital for Active Treatment of Children’s Diseases “prof. Ivan Mitev”Sofia, Bulgaria
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Litvinenko, I
, 
L Grozdanova

L Grozdanova

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
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Grozdanova, L
, 
T Todorov

T Todorov

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
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Todorov, T
, 
V Mitev

V Mitev

Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
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Mitev, V
 y 
A Todorova

A Todorova

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
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Todorova, A
  
12 mar 2024
EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay's Cover Image
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Categoría del artículo: Case Report
Publicado en línea: 12 mar 2024
Páginas: 65 - 68
DOI: https://doi.org/10.2478/bjmg-2023-0019
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© 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).
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).
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Medicina, Ciencias médicas básicas, Ciencias médicas básicas, otros
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