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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發表在:Pediatr Neurol
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: 2020
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Article
在線閱讀: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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