Publications by authors named "Alia Ramirez"
Eur J Med Genet
March 2022
Article Synopsis
- The GRIA3 gene is found on the X chromosome and helps make a part of a brain receptor that is important for learning and memory.
- When this gene doesn’t work right, it can cause problems with memory and learning, and it's linked to conditions like epilepsy.
- In a specific case, a girl with a serious form of epilepsy had a unique change in the GRIA3 gene, which was found to affect how her cells responded to a brain chemical called glutamate.
Article Synopsis
- The study investigates the connection between epilepsy and LAMA2-related muscular dystrophy (MD) by analyzing clinical data from 25 patients.
- Epilepsy was found in 36% of patients, with the most common type being focal seizures often accompanied by visual and autonomic symptoms; 75% of these patients had refractory epilepsy.
- The findings suggest that the severity of cortical malformations, evident through neuroimaging, correlates with the occurrence of epilepsy, indicating that the extent of polymicrogyria could help predict epilepsy in these patients.
