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,...

Descripción completa

Detalles Bibliográficos
Autores principales: Hwang, Su-Kyeong, Lee, Jae-Hyung, Yang, Jung-eun, Lim, Chae-Seok, Lee, Jin-A, Lee, Yong-Seok, Lee, Kyungmin, Kaang, Bong-Kiun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878062/
https://www.ncbi.nlm.nih.gov/pubmed/27216612
http://dx.doi.org/10.1186/s13041-016-0222-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878062/
https://www.ncbi.nlm.nih.gov/pubmed/27216612
http://dx.doi.org/10.1186/s13041-016-0222-6

Ejemplares similares