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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Pubblicato in:Pediatr Neurol
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online: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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