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Article

Complex Neurological Phenotype in Mutant Mice Lacking Tsc2 in Excitatory Neurons of the Developing Forebrain(123).

eNeuro - 1 Jan 2000

Crowell Beth, Lee Gum Hwa, Nikolaeva Ina, Dal Pozzo Valentina, D'Arcangelo Gabriella

Abstract excerpt

Mutations in the TSC1 and TSC2 genes cause tuberous sclerosis complex (TSC), a genetic disease often associated with epilepsy, intellectual disability, and autism, and characterized by the presence of anatomical malformations in the brain as well as tumors in other organs. The TSC1 and TSC2 proteins form a complex that inhibits mammalian target of rapamycin complex 1 (mTORC1) signaling. Previous animal studies...

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Source

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Identifiers

PMID: 26693177
DOI: 10.1523/ENEURO.0046-15.2015
PMCID: PMC4676199

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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