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

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

We present the findings of a Whole Exome Sequencing in a 2-year-old boy, conceived via In Vitro Fertilization with donor sperm, who suffers from an undiagnosed neurological syndrome. The following heterozygous variant in the EPHA4 gene was identified and classified as likely pathogenic: c.1655_1656,...

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Bibliographic Details
Main Authors: Sleptsova M, Georgiev C, Atemin S, Dimova P, Avdjieva-Tzavella D, Tacheva G, Litvinenko I, Grozdanova L, Todorov T, Mitev V, Todorova A
Format: Article
Language:English
Published: Sciendo 2024-03-01
Series:Balkan Journal of Medical Genetics
Subjects:
epha4
whole exome sequencing
epilepsy
novel genetic variant
ophthalmological anomalies
neurodevelopmental delay
Online Access:https://doi.org/10.2478/bjmg-2023-0019

Internet

https://doi.org/10.2478/bjmg-2023-0019

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