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

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,...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Mol Brain
Hauptverfasser: Hwang, Su-Kyeong, Lee, Jae-Hyung, Yang, Jung-eun, Lim, Chae-Seok, Lee, Jin-A, Lee, Yong-Seok, Lee, Kyungmin, Kaang, Bong-Kiun
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4878062/
https://ncbi.nlm.nih.gov/pubmed/27216612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-016-0222-6
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