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

Protein from the liver may cause Alzheimer’s disease in the brain
14 September 2021
Study shows protein that reverses aging of skeletal muscle
14 September 2021

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

Autism affects about 2% of children in the United States, and about 30% of these children have seizures. Recent large-scale genetic studies have revealed that genetic variants in a sodium channel, called voltage-gated sodium channel Nav1.2, are a leading cause of autism. Overactive sodium channels in the neuron cause seizures. Doctors often treat seizures by giving the patient a medication meant to close the sodium channels, reducing the flow of sodium through axons. For many patients, such treatment works, but in some cases—up to 20 or 30%—the treatment doesn’t work. 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.

Comments are closed.