“New Study Reveals Genetic Links to Epilepsy in Patients with Brain Abnormalities”
A recent study from the University Medical Center Utrecht explored the genetic underpinnings of epilepsy in patients with suspected malformations of cortical development (MCD) who underwent surgery between 2015 and 2020. By combining their findings with data from four other studies, the researchers focused on identifying pathogenic genetic variants in brain tissue samples from 663 patients. Shockingly, they discovered that about 31% of these cases had a pathogenic variant, which can influence how epilepsy develops and responds to treatment.
Diving deeper, they found that among specific types of brain malformations, the rates of finding these harmful variants varied. For instance, in cases of focal cortical dysplasia (FCD) type II, 33% had a pathogenic variant, while the much rarer condition of hemimegalencephaly showed a higher rate at 62%. Most of these variants were linked to the mTOR signaling pathway, a crucial pathway that helps regulate cell growth and could play a significant role in epilepsy development.
The study also revealed interesting details about variants in specific genes. For example, 27% of patients with certain types of mild MCD presented variants in ten known focal epilepsy genes, with a whopping 75% of those being in the SLC35A2 gene. Even patients who appeared to have no observable lesions in their brain tissue had genetic variants, indicating that genetic factors could play a larger role in epilepsy than we previously understood.
Additionally, the researchers found that in some cases, the same variant could be present in both the blood and brain tissue of patients, shedding light on the concept of mosaicism, where different cell populations within the same individual have different genetic makeups. Understanding these genetic variants is crucial because it might help doctors tailor treatments and better counsel patients about their epilepsy management. Overall, this study underscores the complex relationship between genetics and epilepsy, suggesting that more research could lead to improved treatment strategies for those affected.