The Association between Epileptiform Activity and Autistic Symptoms in Three Cases with Tuberous Sclerosis

This case study examined the association between epileptic activity such as epileptiform discharges and autistic symptoms; and to examine the effect of mTOR inhibitor everolimus on seizures and epileptiform discharges in three cases with TSC and autistic symptoms. The everolimus treatment improved autistic symptoms in all four cases, however, epileptiform discharges did not disappear in all four cases with everolimus treatment. Thus, epileptiform activity and autistic symptoms may be two end-results of separate brain dysfunction. The evrolimus treatment disappeared a seizure in only one case, suggesting partial overlap between mTOR hyperactivity and a seizure in small subset of cases with TSC. This study for firstly revealed that the everolimus treatment was inefficient for epileptiform discharges. Antiepileptic therapy at early stage of brain development might be effective for epileptic activity.