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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Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: 2020
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Article
Online adgang: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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