A new piece in the puzzle of childhood epilepsy: the role of the KCNA3 gene
Scientists have found that variations in the KCNA3 gene are responsible for some forms of epilepsy
A recent research by the Mnesys project has shed light on one of the genetic causes of childhood epilepsy. Scientists have found that variations in a specific gene, called KCNA3, are responsible for some forms of epilepsy that occur in the first years of life.
The KCNA3 gene
The KCNA3 gene is responsible for producing some proteins involved in the excitability of neurons (the potassium channels of KCNA3). These channels are like doors that allow potassium ions to enter and exit nerve cells, regulating their electrical activity. When these channels do not work properly, abnormal electrical shocks in the brain can occur, causing seizures.
What have the researchers found?
Thanks to this new research, we know that variations in the KCNA3 gene are responsible for a significant number of cases of childhood epilepsy. Scientists have also found that an antidepressant drug, fluoxetine, may be useful in treating some types of epilepsy caused by these genetic variations
New focus on childhood epilepsy
About 60% of epilepsy cases occur before puberty, by the age of 13-14. Yet, the treatment of this disease in children is hampered by the low specificity of available treatments. As stated by Maurizio Taglialatela, Professor of Pharmacology at the “Federico II” University of Naples, “Historically, studies of the efficacy of anticonvulsant drugs have been conducted initially in adults and only subsequently, and not systematically, in pediatric subjects”.
Why is this discovery so important?
This research represents a significant step forward in the understanding and treatment of childhood epilepsy. Thanks to this new knowledge, doctors will be able to:
- Diagnose epilepsy earlier: By identifying genetic variations in the KCNA3 gene, a more accurate and timely diagnosis can be made
- Develop more effective treatments: The discovery of the possible role of fluoxetine opens new perspectives for the development of targeted therapies for children with certain forms of epilepsy
- Explore new avenues of research: The link between epilepsy and gut microbiota opens the way to new research to better understand the causes of epilepsy and develop new treatments
What does this mean for patients?
The discovery of the role of the KCNA3 gene in childhood epilepsy represents a significant step forward in research into this disease. This discovery offers new hope for children with epilepsy. More accurate diagnosis and targeted treatment will improve the quality of life for these patients and their families.