Sumary of A possible new pathway for treating epileptic seizures in patients with autism:
- Recent large-scale genetic studies revealed that genetic variants in a sodium channel, called voltage-gated sodium channel Nav1.2, is a leading cause of autism.
- Doctors often treat seizures by giving the patient a medication meant to close the sodium channels, reducing the flow of sodium through axons.
- These children have “loss-of-function” variants in Nav1.2, which is expected to reduce the sodium channel activity as “anti-seizures.
- ” Thus, how the deficiency in sodium channel Nav1.2 leads to seizures is a major mystery in the field that puzzles physicians and scientists.
- Yang Yang, an assistant professor of medicinal chemistry and molecular pharmacology at Purdue University, and his team, including first-author of the paper post-doctoral researcher Jingliang Zhang, tackled the issue.
- They discovered that in Nav1.2 deficient neurons, the expressions of many potassium channels are surprisingly reduced.
- the issue arises when the potassium channels over-compensate for the sodium channels’ deficiency by shutting down too many potassium channels, making the neuron hyperexcitable, which causes seizures.
- In such cases, treating the sodium channel clearly does not work.