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,...

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Bibliografische gegevens
Gepubliceerd in:Mol Brain
Hoofdauteurs: Hwang, Su-Kyeong, Lee, Jae-Hyung, Yang, Jung-eun, Lim, Chae-Seok, Lee, Jin-A, Lee, Yong-Seok, Lee, Kyungmin, Kaang, Bong-Kiun
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2016
Onderwerpen:
Research
Online toegang: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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