Aug 6, 2021

How mutations in top autism gene could lead to seizures

Posted by in categories: genetics, neuroscience

Some mutations that disable SCN2A, one of the genes most strongly linked to autism, can unexpectedly make neurons hyperexcitable, a study in mice shows. The findings may help explain why a sizeable proportion of autistic children with mutations in SCN2A experience epileptic seizures.

Deleterious mutations in an autism-associated gene can make neurons hyperexcitable, raising the risk of epileptic seizures.

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