A possible new pathway for treating epileptic seizures in patients with autism

a possible new pathway for treating epileptic seizures in patients with autism

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.

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