Publications by authors named "Alba Vilanova-Adell"
We studied a patient with a severe phenotype carrying two GNB5 variants: c.514delT from the unaffected heterozygous mother and c.628-6G>A from the unaffected homozygous father.
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- 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.