Indication

Seizures associated with tuberous sclerosis complex

Seizures associated with tuberous sclerosis complex represent the primary neurological manifestation of an autosomal dominant genetic neurocutaneous disorder caused by inactivating mutations in either the TSC1 or TSC2 genes. Read more about Seizures associated with tuberous sclerosis complex

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About Seizures associated with tuberous sclerosis complex.

Seizures associated with tuberous sclerosis complex represent the primary neurological manifestation of an autosomal dominant genetic neurocutaneous disorder caused by inactivating mutations in either the TSC1 or TSC2 genes.

These genetic variants cause hyperactivation of the mechanistic target of rapamycin signaling pathway, leading to abnormal cellular proliferation, disordered neuronal migration, and the development of benign hamartomatous glioneuronal lesions known as cortical tubers and subependymal nodules.

Clinically affecting pediatric and adult patients, these seizures often begin in infancy as epileptic spasms and frequently evolve into focal or multifocal seizures that demonstrate high rates of pharmacoresistance and correlate with neurodevelopmental and cognitive impairments.

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