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Researchers at The University of Queensland are working to better understand how brain cells work, and they have discovered a mechanism underlying a rare genetic mutation that causes epilepsy
Dr.
"We are all excited and shocked to be able to make such an important contribution to the field of cellular and molecular neuroscience," said Dr.
He emphasized that this kind of mutation is extremely rare, so far there is only one reported case in the world
Dr.
He said: "It turns out that this particular mutation causes receptors in brain cells to exhibit different behaviors, leading to an imbalance in brain cell communication, which leads to disorder
"For example, cells that talk too much are associated with epilepsy and unnecessary cell death, while cells that talk too little have a negative impact on learning and memory
"There are many other examples of other mutations in the same gene that are known to be linked to epilepsy
"What we know is that this receptor is essential for brain function, and when it is dysfunctional, it can cause epilepsy
"These findings point the way for further research to understand and possibly treat similar mutations
The imbalance of brain cell communication is also thought to be related to neurological diseases such as Alzheimer's and autism
Dr.
He said: "The U.
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This research was published in Cell Reports (DOI: 10.
