CELSR1 Gene Variants Linked to Brain Malformations and Epilepsy

Source: Nature communications

Summary

Researchers studied the CELSR1 gene and its impact on brain development and function in seven individuals from five different families. These individuals had various brain malformations, developmental delays, and in some cases, epilepsy. The study used advanced genetic testing methods to identify specific changes in the CELSR1 gene that might be causing these issues.

The key findings showed that mutations in the CELSR1 gene are linked to serious brain problems, including unusual brain shapes and structures, as well as developmental challenges. In some of the individuals, these genetic changes were also associated with seizures. Animal studies with mice that had the CELSR1 gene removed showed similar brain abnormalities and a higher likelihood of having seizures, suggesting that this gene plays a crucial role in brain development and function.

Understanding the role of the CELSR1 gene is important because it helps explain some of the causes behind certain brain malformations and developmental disorders. This knowledge could lead to better diagnosis and treatment options for affected individuals. However, the study is limited by the small number of cases, so more research is needed to fully understand how these genetic changes affect brain development and to explore potential therapies.

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