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How mutations in top autism gene could lead to seizures

Posted in 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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