Sirolimus Treatment in Sturge-Weber Syndrome

BACKGROUND: Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLE), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mTOR pathway....

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Publicado en:Pediatr Neurol
Autores principales: Sebold, Alison J., Day, Alyssa M., Ewen, Joshua, Adamek, Jack, Byars, Anna, Cohen, Bernard, Kossoff, Eric H., Mizuno, Tomoyuki, Ryan, Matthew, Sievers, Jacqueline, Smegal, Lindsay, Suskauer, Stacy J., Thomas, Cameron, Vinks, Alexander, Zabel, T. Andrew, Hammill, Adrienne M., Comi, Anne M.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2020
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8209677/
https://ncbi.nlm.nih.gov/pubmed/33316689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2020.10.013
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