Potential Treatment for a Type of Epilepsy
New research explained
New research explained
Researchers developed a mouse model for a progressive type of epilepsy called EPM7. Their findings suggest a possible treatment target.
What is EPM7?
EPM7 is a seizure disorder that also involves muscle jerking and loss of coordination over time. It starts in childhood and gets worse, eventually leaving patients wheelchair-bound.
It is caused by a mutation in the gene KCNC1. This gene helps make potassium channels that control electrical signaling in the brain.
Studying EPM7 in mice
To study EPM7, the researchers genetically engineered mice to have the same KCNC1 mutation that causes EPM7 in people.
The mice showed similar problems with:
Motor coordination and balance
Seizure susceptibility
Spontaneous seizures
This matches the human disease.
Tracing the problem to specific brain cells
The researchers looked at two types of brain cells that use the KCNC1 potassium channels:
Cerebellar granule cells: Important for coordination
Cortical PV cells: Help prevent seizures
Both cell types had electrical signalling problems consistent with dysfunctional potassium channels.
This suggests which cellular circuits go wrong in EPM7.
Testing a potential treatment
The researchers tested a drug that enhances potassium channel activity.
In EPM7 mice, the drug:
Improved motor coordination
Decreased seizures
This indicates drugs that target the potassium channels could treat EPM7.
Next steps
More research is needed, but this mouse model and drug target are an important first step toward better understanding and treating EPM7.
References:
Published:January 23, 2024DOI:https://doi.org/10.1016/j.xcrm.2023.101389