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Article

Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation.

Molecular brain - 23 May 2016

Hwang Su-Kyeong, Lee Jae-Hyung, Yang Jung-Eun, Lim Chae-Seok, Lee Jin-A, Lee Yong-Seok, Lee Kyungmin, Kaang Bong-Kiun

Abstract excerpt

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multiple symptoms including neuropsychological deficits such as seizures, intellectual disability, and autism. TSC is inherited in an autosomal dominant pattern and is caused by mutations in either the TSC1 or TSC2 genes, which enhance activation of the mammalian target of rapamycin (mTOR) signaling pathway. Recent studies have...

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Source

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Identifiers

PMID: 27216612
DOI: 10.1186/s13041-016-0222-6
PMCID: PMC4878062

Genes

TSC2
TSC1

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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