The CACNA1A gene codes for a crucial component of calcium channels in the brain, which help regulate electrical signals between nerve cells. Changes (variants) in this gene can lead to conditions such as epilepsy, migraine, or movement disorders. However, not all variants are clearly harmful. This thesis examined how different CACNA1A variants affect the electrical activity of nerve cell networks. The results showed that different types of genetic changes have different effects on the activity of brain cell networks. Variants that reduce the gene’s function caused only small changes, while other variants that alter how the gene works had a stronger impact. Some changes with previously unclear effects also disrupted normal brain cell activity, suggesting they may contribute to disease. These findings show that studying brain cell activity can help identify which genetic variants are likely to cause neurological problems.
Marina Hommersom (1994) obtained her Master’s degree in Molecular Life Sciences, cum laude, at the Radboud University in 2018. In 2019, she started with her PhD research as part of the department Human Genetics of Radboudumc. Currently, she is working as postdoctoral researcher within the same department of Radboudumc.