Which genetic syndrome is commonly associated with both epilepsy and autism?

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Tuberous sclerosis complex is well-known for its association with both epilepsy and autism. This genetic disorder leads to the development of benign tumors in various organs, including the brain. These tumors can disrupt normal neural function and are a significant contributor to the occurrence of epilepsy in affected individuals.

Moreover, individuals with tuberous sclerosis complex show a higher prevalence of autistic spectrum disorders compared to the general population. The neurological manifestations of this syndrome, including developmental delays and social communication deficits, frequently coexist with the characteristics of autism.

While other conditions listed can also present with autistic traits or seizures, such as Fragile X syndrome, which is predominantly linked with developmental delays and often impacts emotional and educational aspects, tuberous sclerosis complex is distinctly noted in the literature for the dual occurrence of both epilepsy and autism symptoms. This combined presentation makes tuberous sclerosis complex particularly notable in pediatric neurology for clinicians assessing developmental disorders.

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