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Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome with a variable neurocognitive phenotype. Recently, different intelligence profiles were observed for distinct mutation types and locations, suggesting that individuals with missense mutations represent a subgroup with milder neurocognitive outcomes. We applied these recent insights to the analysis of the epilepsy phenotype in a large...
Background: Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease.
Methods: A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were reviewed for a history of infantile spasms (IS), seizure other than IS, refractory epilepsy, Lennox‐Gastaut syndrome...
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