NBEA Gene Variant Linked to Developmental Delays and Seizures
Source: Frontiers in neuroscience
Summary
Researchers studied a specific genetic change in the NBEA gene in a child from China who had developmental delays and epilepsy. The child experienced recurrent seizures, especially during fevers, and brain scans did not show any structural problems. Genetic testing revealed a new harmful variant in the NBEA gene, which is known to be linked to various neurodevelopmental disorders and epilepsy.
The key finding of this study is that the identified genetic variant in the NBEA gene is likely causing the child's developmental issues and seizures. This variant is a type of mutation that disrupts normal gene function, which can lead to problems in brain development and function. The study adds to the understanding of how changes in the NBEA gene can result in both developmental delays and epilepsy, particularly in young children.
This research is important because it helps clarify the relationship between the NBEA gene and certain developmental disorders, including epilepsy. However, the study has limitations, as it only focuses on one child, and there may be other genetic factors that were not detected. Understanding these genetic links can help in diagnosing and managing similar cases in the future.
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