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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Detalhes bibliográficos
Publicado no:Mol Brain
Main Authors: Hwang, Su-Kyeong, Lee, Jae-Hyung, Yang, Jung-eun, Lim, Chae-Seok, Lee, Jin-A, Lee, Yong-Seok, Lee, Kyungmin, Kaang, Bong-Kiun
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research
Acesso em linha: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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