Epilepsy is a brain disorder that causes recurring seizures.
It is one of the most common neurological diseases, and it affects approximately 50 million people worldwide, according to the World Health Organization. In 2023, nearly 450,000 children in the United States were diagnosed with the disease.
The Weston lab is particularly interested in a gene called KCNT1. This specific segment of DNA carries the instructions for a protein that forms an ion channel that acts like a tiny gate embedded in the membrane of neurons to control the flow of potassium ions. We're using mouse models with the exact same KCNT1 mutations that cause severe and untreatable epilepsy in kids. By closely examining these models, we hope to discover a path to therapeutic intervention."
By looking at the neurons in the brains of these models, Weston aims to uncover fresh perspectives on the alterations in neuronal function induced by KCNT1 mutations, resulting in heightened excitability and seizure occurrence. More importantly, he hopes to pinpoint the neuron types most susceptible to these changes, potentially guiding the development of innovative treatment strategies.
Research Brain Children Epilepsy Gene Mouse Model Mutation Neuron Neurons Seizure
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