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Article

A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits

25 Feb 2013

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant monogenetic disorder that is characterized by the formation of benign tumors in several organs as well as brain malformations and neuronal defects. TSC is caused by inactivating mutations in one of two genes, TSC1 and TSC2, resulting in increased activity of the mammalian Target of Rapamycin (mTOR). Here, we explore the cytoarchitectural and functional CNS...

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PMID: 23485365
DOI: 10.1016/j.ijdevneu.2013.02.008

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