Accesso libero

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
Cerca questo autore su
Sciendo|Google Scholar
Sleptsova, M
, 
C Georgiev

C Georgiev

ULB Neuroscience Institute, Université libre de Bruxelles (ULB)Brussels, Belgium
Cerca questo autore su
Sciendo|Google Scholar
Georgiev, C
, 
S Atemin

S Atemin

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
Cerca questo autore su
Sciendo|Google Scholar
Atemin, S
, 
P Dimova

P Dimova

St. Ivan Rilski University HospitalSofia, Bulgaria
Cerca questo autore su
Sciendo|Google Scholar
Dimova, P
, 
D Avdjieva-Tzavella

D Avdjieva-Tzavella

Department of Clinical Genetics, University Pediatric HospitalSofia, Bulgaria
Cerca questo autore su
Sciendo|Google Scholar
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
Cerca questo autore su
Sciendo|Google Scholar
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
Cerca questo autore su
Sciendo|Google Scholar
Litvinenko, I
, 
L Grozdanova

L Grozdanova

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
Cerca questo autore su
Sciendo|Google Scholar
Grozdanova, L
, 
T Todorov

T Todorov

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
Cerca questo autore su
Sciendo|Google Scholar
Todorov, T
, 
V Mitev

V Mitev

Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
Cerca questo autore su
Sciendo|Google Scholar
Mitev, V
 e 
A Todorova

A Todorova

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
Cerca questo autore su
Sciendo|Google Scholar
Todorova, A
  
12 mar 2024
EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay's Cover Image
INFORMAZIONI SU QUESTO ARTICOLO
Articolo precedente
Articolo Successivo
Cita
Scarica la copertina
Categoria dell'articolo: Case Report
Pubblicato online: 12 mar 2024
Pagine: 65 - 68
DOI: https://doi.org/10.2478/bjmg-2023-0019
Parole chiave
© 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).
Lingua:
Inglese
Frequenza di pubblicazione:
2 volte all'anno
Argomenti della rivista:
Medicina, Scienze medicali di base, Scienze medicali di base, altro
Feed RSS della rivista